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979 Cards in this Set
- Front
- Back
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How is heart rate scored in APGAR
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>100 2 points
<100 1 point Absent 0 points |
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Pale, blue extremities but central pinkness receives how many apgar points?
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1 points
Pink 2 points Blue or Pale all over 0 points |
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A Facial grimace but lack of active withdraw receives how many points on apgar?
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1 points
No response to stimulation= 0 points Cry of pull away when stimulated = 2 points |
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A 12h newborn is noted to have nontender swelling of head that does not cross suture lines. Most likely Dx? Prognosis?
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cephalohematoma (subperiosteal haemorrhage)
may have underlying linear fracture resolve in 2wk-3mnths may calcify increased risk of jaundice |
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A 12h newborn is noted to have swelling of soft tissues of scalp that crosses suture lines. Most likely Dx?
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caput succedaneum
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What is the prognosis of a cephalohematoma in a newborn? How does it present?
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may have underlying linear fracture
resolve in 2wk-3mnths may calcify increased risk of jaundice; haematoma/dark swelling that does NOT cross suture lines |
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Erb-Duchenne palsy
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C5-6 palsy; waiters tip
cannot shoulder abduct |
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Klumpke palse
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C7-C8 +/- T1
paralyzed hand +/- Horner syndrome |
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A newborn has a flat, salmon-colored lesion on the glabella, which becomes darker red when he cries. Most likely Dx and prognosis?
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nevus simplex; facial ones disappear; posterior ones may persist
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A newborn infant has a blue-gray pigmented lesion on the sacral area. It is clearly demarcated and does not fade into the surrounding skin. Most likely Dx and prognosis?
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mongolian spot; arrested melanocytes; usually fade
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Lacy, reticulated vascular pattern over most of body when baby is cooled; improves over first month; can be associated with some syndrome.
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cutis marmorata
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milia
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firm, white papules; inclusion cysts
spontaneous resolution |
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firm, yellow-white papules/pustules with erythematous base; peaks on second day of life, contain eosinophils, self-limited
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erythema toxicum
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vascular malformations, usually permanent, unilateral, most on head and neck
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nevus flammeus
port wine stain |
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what is an important DDx for port wine stain
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Sturge-weber syndrome
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High maternal androgens can lead to what skin condition in the neonate?
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neonatal acne
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Congenital, hereditary, bilateral iris hypoplasia in which the iris appears absent of superfiical clinical examination
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aniridia
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mass arising lateral to the midline that does not move with swallowing. Most likely Dx in newborn?
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brachial cleft cyst
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Mass arising in the midline; moves with swallowing. Most likely Dx in newborn?
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thyroglossal duct cyst
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torticollis
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twisted neck
dystonia resulting in fixed or dynamic posturing of head and neck |
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Poland syndrome
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amastia, pectoralis major aplasia, rib deformities, webbed fingers, radial nerve aplasia
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Pectus excavatum
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funnel chest; usually benign, isolated deformity
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Pectus carinatum
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pigeon chest; usually benign, isolated deformity
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Newborn presents with scaphoid abdomen and bowel sounds in chest. Most likely Dx?
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diaphragmatic hernia
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Difference between gastrischisis and omphalocele
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Omphalocele is through umbilicus with sac covering
Gastrischisis is lateral to midline with no sac covering |
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DDx for abdominal masses in newborn
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polycystic kidney disease
hydronephrosis enlarged bladder |
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urethral opening on ventral surface of penis
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hypospadias
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urethral opening on dorsal surface
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epispadias
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A 1 mnth old fair-haired, fair skinned baby presents with projectile vomiting of 4 days' duration. Physical exam reveals a baby with eczema and musty odor. Which screening test would most likley be abnormal?
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PKU
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When should formal newborn screening be performed?
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after 48hrs
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Pathyophysiology of Phenylketonuria (PKU)
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Phenylalanine hydroxylase; accumulation of PHE in body fluids and CNS
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Presentation of PKU
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mental retardation, vomiting, growth retardation, hyperactive purposeless movements, athetosis, seizures, fair hair, fair skin, blue eyes, rash, tooth abnormalities
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Pathophysiology of galactosemia
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G-1-P uridylytransferase deficiency; accumulation of G-1-P with injury to kidney, liver and brain
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Presentation of galactosemia
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Jaundice (often direct), hepatomegaly, vomiting, hypoglycemia, cataracts, seizures, poor feeding, poor weight gain, mental retardation
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Galactosemia predisposes a newborn to...
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E. coli sepsis
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Prognosis of galactosemia?
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Remove lactose from diet- reverses growth fairlure, kidney, liver abnormalities and cataracts
Long term neurodevelopmental problems are irreversible |
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Genetic syndromes, chromosomal abnormalities, congenital infections, teratogens, toxins are most likely to cause what form of IUGR?
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symmetric
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Uroplacental insufficiency secondary to maternal disease (e.g. malnutrition, anaemia) is most likely to cause what form of IUGR?
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asymmetric (head sparing)
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Placental dysfunction (HTN, autoimmune disease, abruption) is most likely to cause what form of IUGR?
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asymmetric (head sparing)
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Define prematurity
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liveborn infants delivered prior to 37 wks as measured from the first day of last menstrual period
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List characteristics of post-term delivery?
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increased birth weight, absence of lanugo, decrease/absent vernix, desquamating, pale, loose skin, abundant hair, long nails. Increased risk meconium staining.
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Maternal hyperglycemia causes fetal...
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hyperinsulinemia leading to hypoglycaemia
also (hypocalcaemia, hypomagnesemia, hyperbilirubinaemia) |
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Clinical findings in macrosomic neonate born to mother with hyperglycemia?
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tachypnea
cardiomegaly - asymmetric septal hypertrophy birth trauma polycythemia (hyperviscosity) renal vein thrombosis (flank mass, hematuria, thrombocytopenia) increased incidence of congenital abnormalities - cardiac esp VSD, ASD, transposition, truncus arteriosus - small left colon syndrome |
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choanal atresia
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complete nasal obstruction - causes respiratory distress
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Shortly after birth, a 33 wk gestation infant develops tachypnea, nasal flaring and grunting. CXR shows a hazy, ground class appearance. What is most likley Dx?
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respiratory distress syndrome
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RDS pathophysiology
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deficiency of mature surfactant. Leads to inability to maintain alveolar volume at end expiration. Decreased FRC and atelectasis
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CXR findings in RDS
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ground-glass appearance
atelectasis air bronchograms |
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Slow absorption of fetal lung fluid, decreased pulmonary compliance and tidal volume with increased dead space causes what condition in the new born?
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Transient tachypnea of the newborn (TTN)
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CXR findings in TTN
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air-trapping, fluid in fissues, perihilar streaking
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CXR findings in meconium aspiration
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patchy infiltrates, increased AP diameter, flattening of diaphragm
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A newborn is noted to cough and gag with first feeding and then develops respiratory distress. This is the classic presentation for what condition?
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tracheoesophageal fistula
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Transmural intestinal necrosis in the newborn is also called...
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necrotizing enterocolitis (NEC)
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What is the biggest risk factor for NEC?
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prematurity
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Presentation of NEC
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following introduction of feeds: bloody stool, apnea, lethargy and abdominal distention once perforation has occurred.
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What is the pathognomonic xray sign of NEC
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pneumatosis intestinalis
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Hirschsprung disease
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congenital absence of ganglion cells in distal colon resulting in functional obstruction; both myenteric (Auerbach) plexus and submucosal (Meissner) plexus are absent.
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Bilious vomiting from 1st feeding + double-bubble sign on abdo xray is characteristic of...
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duodenal atresia
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Which form of bilirubin may cause kernicterus?
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unconjugated (indirect) as it can cross the blood-brain barrier
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Presentation of kernicterus?
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hypotonia, seizures, opisthotonos, delayed motor skills, choreoathetosis, sensorineural hearing loss
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Characteristics of physiologic jaundice
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2-5 day of life (peaks 2nd)
Peak bilirubin 10-12 mg/dL Rate of bilirubin rise <5mg/dL/d |
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Characteristic of pathologic jaundice
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appearance in first 24hrs
Rate of rise >5mg/dL/d |
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Causes of direct hyperbilirubinaemia
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sepsis, TORCH, total parenteral nutrition, hypothyroid, galactosemia, tyrosinemia, CF, choledochal cyst
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Causes of coombs + indirect hyperbilirubinaemia
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Rh/ABO incompatibility
Thalassemia minor |
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Causes of coombs - indirect hyperbilirubinaemia
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Polycythemia
Twin-twin transfusion maternal-fetal transfusion infant of diabetic mother spherocytosis elliptocytosis G6PD deficiency pyruvate kinase |
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Breast-milk jaundice
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occurs due to glucuronidase present in some breast milk.
Become jaundiced in 2nd week |
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unconjugated
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indirect
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indirect
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unconjugated
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direct
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conjugated
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conjugated
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direct
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List types of Familial nonhemolytic unconjugated hyperbilirubinemia
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crigler najjar (type I, II)
Gilbert syndrome |
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Criger-Najjar type 1
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type 1 glucuronyl transferase deficiency (autosomal recessive)
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Almost all infants with this congenital condition develop kernicterus?
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crigler-najjar type I
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crigler-najjar type II
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partial enzymatic deficiency (autosomal recessive)
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gilberts syndrome
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low glucuronyl transferase levels with unconjugated hyperbiliubinemia (polymorphism in promoter region of gene)
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List inherited CONJUGATED hyperbilirubinaemia
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dubin-johnson syndrome
Rotor syndrome |
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Dubin-johnson syndome
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transfer of bilirubin and other organic anions from liver to bile is defective
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Risk factors for neonatal sepsis
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prematurity, chorioamnionitis, intrapartum fever, maternal leukocytosis, prolonged rupture of membranes
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What organisms are commonly implicated in neonatal sepsis
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Group B streptococcus
E. coli Listeria monocytogenes |
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TORCH
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Toxoplasmosis
Other (syphilis) Rubella CMV Herpes |
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Toxoplasmosis
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primarily from ingestion of undercooked or raw meat containing tissue cysts. Ingestion of water or food with oocytes that have been excreted by infected cats (fecal contamination)
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Presentation of toxoplasmosis
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jaundice, hepatosplenomegaly, thrombcytopenia, anemia, microcephaly, chorioretinitis, hydrocephalus, intracranial calcification, seizures
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What is long term implications of toxoplasmosis
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psychomotor retardation, seizure disorder, visual impairments
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Congenital rubella presenation
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Blueberry muffin spots (extramedullary hematopoiesis)
Cardiac- PDA, peripheral pulmonary artery stenosis, septal defects Eye- cataracts Congenital hearing loss Thrombocytopenia Hepatosplenomegaly |
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Blueberry muffin spots are associated with...
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congenital rubella presentation
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What are the long term implications of congenital rubella
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hearing loss
persistent growth retardation microcephaly mental and motor retardation |
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Congenital CMV presentation
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petichiae, ecchymoses
Hepatosplenomegaly, jaundice Periventricular calcifications Intrauterine growth retardation Chorioretinitis Microcephaly Thrombocytopenia, hemolytic anaemia |
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Long term effects of congenital CMV?
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sensorineural hearing loss
neuromuscular abnormalities mental retardation |
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periventricular calcifications are associated with..
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Congenital CMV
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List the 3 clinical syndromes associated with congenital herpes
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disseminated 5-7days
skin, eyes, mouth 5-14 days CNS 3-4 wks |
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Which TORCH infections are more commonly transmitted during 2nd half of gestation
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syphillis
herpes |
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Early signs of congenital syphilis
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<2yrs: fever, anaemia, failure to thrive, snuffles, maculopapular rash, jaundice, anemia, periositis
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Late signs of congenital syphillis
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>2yrs: Hutchinson teeth, Clutton joints, saber skins, saddle nose, osteochondritis rhagades (thickening and fissure of corners of mouth)
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signs of Congenital varicella
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limb hypoplasia, cutaneous scars, microcephaly, chorioretinitis, cataracts, cortical atrophy
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limb hypoplasia, cutaneous scars, microcephaly, chorioretinitis, cataracts, cortical atrophy are signs of...
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congenital varicella
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Key distinguishing features of TORCH infections
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Toxoplasmosis: hydrocephalus with generalised calcification and chorioretinitis
Rubella: cataracts, deafness, heart defects CMV: microcephaly with periventricular calcification Herpes: skin vesicles, keratoconjunctivits, acute meningoencepahlitis Syphilis: osteochondritis, periostitis, skin rash involving palms and soles and is desquamating (snuffles) |
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Causes of neonatal seizures
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hypoxic ischaemic encephalopathy
intraventricular haemorrhage metabolic infection |
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Presentation of hypoxic ischaemic encephalopathy most commonly occurs...
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12-24hrs
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Neonatal Intraventricular haemorrhage most commonly occurs...
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1-3 days after birth
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Neonatal seizures are associated with what metabolic disorders...
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Maternal diabetes, inborn errors of metabolism, Di George syndrome
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Deletion of part of chromosome 22
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Di george syndrome: congenital heart defects, velo-pharyngeal insufficiency, defects in palate, learning difficulties, immunodeficiency
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Maternal Graves disease may cause _____ in foetus/neonate
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transient thyrotoxicosis
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Maternal Hyperparathyroidism disease may cause _____ in foetus/neonate
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hypocalcaemia
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Maternal Idiopathic thrombocytopenia disease may cause _____ in foetus/neonate
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thrombocytopenia
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Maternal myasthenia gravis may cause _____ in foetus/neonate
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transient neonatal myasthenia
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Maternal SLE may cause _____ in foetus/neonate
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Congenital heart block
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Use of NSAIDs during pregnancy may cause ___ in foetus
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premature closure of ductus arteriosus
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Use of Lithium during pregnancy may cause ____ in foetus
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ebstein's anomaly
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Use of Diethylstilbestrol (DES) during pregnancy may cause ____ in foetus
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vaginal adenocarcinoma
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Use of Tetracycline during pregnancy may cause ____ in foetus
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enamel hypoplasia, discolored teeth
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Use of warfarin during pregnancy may cause ____ in foetus
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facial dysmorphism, chondrodysplasia
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Use of valproate/carbamezepine during pregnancy may cause ____ in foetus
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mental retardation, neural tube defects
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Use of ACE inhibitors during pregnancy may cause ____ in foetus
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craniofacial abnormalities
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characteristic features of Downs syndrome
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upward slanting palpebral fissues, Brushfield sports, inner epicanthal folds, myopia, strabismus, small stature, mouth open with tongue protrusion, late fontanel closure, mild microcephaly, short metacarpals and phalanges, simian crease, hypotonia, hearing loss, cardiac anomaly, duodenal atresia, atlanto-axial instability, hypothyroidism, ALL, mental retardation, early onset of AD
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Features of Trisomy 18 (edwards syndrome)
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growth deficiency, mental retardation, low-set malformed ears, microcephaly, micrognathia, prominent occiput, clenched hand, short sternum, hernia, VSD, ASD, PDA, rocker-bottom feet, hammer toe, omphalocele, renal abnormalities
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What GIT abnormalities is associated with downs syndrome
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duodenal atresia, tracheoesophageal fistula
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Patau syndrome is also called
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Trisomy 13
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Features of Patau
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microcephaly, microphthalmia, cleft lip, palate, holoprosencephaly, scalp defects in parietal occipital area, polydactyly, VSD, PDA, ASD, single umbilical artery, polycystic kidneys
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WAGR syndrome
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Wilms + aniridia + GU anomalies + MR
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Klinefelter syndrome (XXY) incidence
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1:500 males
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Features of Klinefelter syndrome
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mental retardation, behavioural problem, long limbs, slim (eunuchoid appearance), hypogonadism, hypogenitalism (testosterone replacement at 11-12yrs), gynecomastia
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Features of Turner syndrome
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small- stature female, gonadal dysgenesis, tendency to become obese, average IQ 90, decreased motor skills, incoordination, congenital lymphendema, residual puffiness over dorsum of fingers and toes, broad chest, wide-spaced nipples, low posterior hairline, webbed posterior neck, cubitus valgus, horeshoe kidney, double renal pelvis, cardiac abnormalities
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Fragile x syndrome
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fragile site on long arm of X in affected males and some carrier females (variable number of repeat CGG)
X-linked - males |
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What is the most common cause of mental retardation in boys
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fragile x syndrome
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Features of fragile X sydnrome
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mild to profound mental retardation
attention problems with hyperactivity macrocephaly in early childhood large ears, dysmorphic facial features large testes (mostly in puberty macroorchism) |
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Do patients with fragile x syndrome have reduced lifespan?
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no, normal lifespan
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Etiology of Beckwith-Wiedermann syndrome
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sporadic, IGF-2 disrupted at 11p15.5
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Features of Beckwith-Wiedermann syndrome
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macrosomia, macroglossia, pancreatic beta cell hyperplasia (excess islets - hypoglycemia)
fetal adrenocortical cytomegaly large kidneys with renal medullary dysplasia omphalocele increased risk of abdominal tumors |
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Pts with beckwith-wiedermann syndrome need to be monitored for...
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wilms tumor
hepatoblastoma |
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Etiology of Prader-WIlli syndrome
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most with deletion at 15q11q13
paternal chromosome |
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Features of Prader-Willi syndrome
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Obesity- onset from 6mnths-6yrs
Mild to severe mental retardation binge eating small hands and feet, puffy small genitalia |
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Binge eating is associated with what congenital syndrome?
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Prader-Willi syndrome
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Etiology of Angelman syndrome
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15q11q13
maternally derived |
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Features of Angelman syndrome
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Severe MR, paroxysm of inappropriate laughter, absent speech or <6works; most can communicate with sign language, large mouth with tongue protrusion, prognathism, ataxia and jerky arm movement
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Happy Puppet is an insensitive term used to refer to which congenital sydnrome?
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angelman syndrome
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Pierre Robin Syndrome
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mandibular hypoplasia in utero leading to posterior placed tongue and cleft palate.
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micrognathia, glossoptosis, cleft soft palate are features of ....
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Pierre Robin syndrome
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Waardenburg syndrome
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autosomal dominant; lateral displacement of inner canthi with short palperal fissues, broad and high nasal bridge, medial flaring of eyebrows, partial albinism, deafness
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Partial albinism associated with deafness and facial features with an AD inheritance
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Waardenburg syndrome
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Genetics of Achondroplasia
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AD; 90% from new gene mutation
older paternal age, mutations in gene for FGFR3 |
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Findings in achondroplasia
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short stature, megalocephaly, small foramen magnum, short cranial base, prominent forehead, lumbar lordosis
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Spinal cord compression in Pts with achondroplasia usually occurs...
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in 1st year of life
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Genetics of Marfan syndrome
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AD with wide variability
Mutations in fibrillin gene (FBN1) 15q21.1 |
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Findings in marfan syndrome
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tall stature with long, slim limbs and little fat
hypotonia, arachnodactyly, joint laxity with kyphoscoliosis, pectus excavatum or carinatum, lens subluxation, dilatation of ascending aorta |
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Complications of marfans syndrome
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lens subluxation
Cardiac: dilatation with or without dissection aneurysm of ascending aorta, secondary aortic regurgitation, mitral valvue prolapse |
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What is the chief cause of death in patients with Marfans
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vascular complications (decreased if treated with beta-blocker)
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Inheritance of Elhers-Dalos syndrome
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autosomal dominant
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Findings in ehlers-danlos syndrome
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droopy ears, hyperextensible skin, fragile, easy bruisability, poor wound healing, joint hyperlaxity, tendency toward hip, shoulder, knee, and clavicular dislocation, MVP and tricuspid valve prolapse, aortic root dilatation, blue sclera, myopia, glaucoma, ectopia lentis, retinal detachment
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Genetics of Osteogenesis Imperfecta
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Autosomal dominant with marked variability
Quantitative defect in production of type I collagen |
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Features of osteogenesis imperfecta (type 1)
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growth deficiency
hypoplasia of dentin and pulp (translucent teeth) skin and sclerae thin and translucent (blue sclerae) easy bruising, bowing of limbs, scoliosis, kyphosis, fractures, hyperextensible joints, hearing impairment secondary to otosclerosis |
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Features of fetal alcohol syndrome (FAS)
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pre- and postnatal growth deficiency
Metal retardation Fine motor dysfunction, irritability in infancy, hyperactivity, behavorial abnormalities Mild-to-moderate microcephaly cardiac anomalies VSD>ASD |
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Potter syndrome
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renal agenesis/dysgenesis (oligohydramnios)
fetal compression (potter facies) Breech presentation Pulmonary hypoplasia |
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What is the main cause of death in Potter syndrome?
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respiratory insufficiency
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Elfin facies, friendly, talkative personality, growth deficiency, mild to mod mental retardation
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Williams syndrome
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Williams syndrome
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elfin facies, friendly/talkative, hypersensitive to sound, hoarse voice
hypercalcaemia supravalvular aortic stenosis renal artery stenosis with HTN |
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Noonan syndrome
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Turner-like (also affects males)
post-natal short stature, mental retardation, abnormaal facies, low posterior hairline, short or webbed neck, pectus excavatum, cubitus valgus pulmonary valvular stenosis, cryptorchism |
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VACTERL
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vertebral defects
anal atresia (imperforate anus) cardiac defects (VSD and others) TE fistula Esophageal atresia Renal defects Limb defects (radial) |
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CHARGE
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coloboma (isolated iris, anophthalmos, retinal most common)
heart defects (TOF, PDA) Atresia choanae Retardation of growth and/or development Genital hypoplasia (in males) Ear anomalies and/or deafness |
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coloboma
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hole in one of the structures of the eye e.g. iris, retina, choroid or optic disc.
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Prune belly syndrome
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95% of cases are male. Defect in mesodermal development. Genitourinary defects, absence of anterior abdominal wall muscles, cryptochidism
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Peutz-Jeghers syndrome
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AD; 50% have no family Hx; high rate of spontaneous mutation
Pigmentation and polyps |
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Pigmementations and polyps
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Peutz-Jedher syndrome
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Where are polyps in Peutz-Jegher?
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jejunum, nasopharynx, bladder
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Describe pigmentation of peutz-jeghers?
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vertical bands of epidermal pigment appear as blue-graw or brownish spots on lips, oral mucus membranes and periorally.
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LEOPARD syndrome
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lentigines
ECG abnormalities Ocular HTN Pulmonary stenosis Abnormalities of genitalia (hypogonadism, cryptoochidism) retardation of growth deafness (sensorineural) |
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lentigines
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1-5mm dark spots esp on neck and trunk; differ from freckles in that they are darker, are present at birth, not related to sunlight and increase in number with age
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A newborn loses up to 10% in first week. By when should this be regained?
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end of 2nd week
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How much weight should neonate gain /day?
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30g
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When should an infant double birth weight?
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6mnths
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Between age 6-12, how many growth spurts/year
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3-6 for 8 wks each
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When is growth velocity highest in adolescence?
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11.5 in girls
13.5 in boys |
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Height % at age ___ correlates with final adult heigh %
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2yrs
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What is the single indicator for acute malnutrition
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weight/height <5th percentile
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Which needs more energy/kg, adults or infants?
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infants need 3x more energy per unit body weight
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Which has more calories/ml human or cow milk?
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same 20cal/oz
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what is the dominant protein in human milk?
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whey
(casein dominant in cow) |
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Which has lower renal solute load, cow or human milk?
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human
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CA=BA
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ideal, genetic (familial) short stature
genetic, chromosomal, endocrine related |
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CA>BA
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constitutional delay- chronic systmic disease, endocrine related
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|
|
CA<BA
|
obesity: precocious puberty, congenital adrenal hyperplasia, hyperthyroidism
|
|
|
congenital adrenal hyperplasia
|
AR; mutations of genes for enzymes which turn cholesterol into cortisol (steroidogenesis)
|
|
|
Clinical presentation congenital adrenal hyperplasia
|
vomiting
ambiguous genitalia in females early pubic hair and rapid grwoth in childhood precocious puberty or failure of puberty excessive facial hair, virilization and/or mentrual irregularity enlarged clitoris, shallow vagina |
|
|
pathologic short stature
|
crangiopharyngioma, hypothyroidism, hypopituitarism
|
|
|
a brain tumor derived from pituitary gland embyronic tissue that occurs most commonly in children but also in men and women in their 50s and 60s
|
craniopharyngioma
|
|
|
Causes of tall stature
|
usually a normal variant (familial)
exogenous obesity, endocrine cause (GH excess, gigantism, acromegaly) androgen excess (tall as children, short as adults) hypothyroidism homocystinuria, Sotos, Klinefelter, Beckwith-weidermann |
|
|
Homocystinuria
|
AR
marfanoid features mental retardation/psychiatric disturbances |
|
|
Sotos syndrome
|
large for gestational age, mental retardation, hydrocephalus, prominent forehead, epicanthal folds, flat nasal bridge, pointed chin
|
|
|
Causes of malnutrition
|
starvation, deprivation, abuse
malabsorption (infection, celiac disease, CF, diaccharide deficiency, protein-losing enteropathy) Allergies, immunodeficiency, chronic disease |
|
|
Prader-Willi syndrome
|
seven genes on chromosome 15 are deleted or unexpressed.
low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviours, chronic feeling of hunger than can lead to excessive eating and life-threatening. |
|
|
Kwashiorkor
|
protein/energy malnutrition
inadequate caloric intake and severe protein deficiency lethargy, apathy, irritability |
|
|
marasmus
|
energy deficiency
|
|
|
vitamin A deficiency
|
ocular lesions, dry, scaly skin, anemia, increased intracranial pressure, mental retardation, growth retardation
|
|
|
what are the functions of vitamin A
|
retinal pigments, bone and teeth development, epithelial maturation
|
|
|
vitamin B1
thiamine deficiency |
Beri-Beri CNS; nausea, peripheral neuritis, congestive heart failure, ptosis, ataxia, increased ICP, paralysis of laryngeal nerve.
|
|
|
function of B1 thiamine
|
coenzyme in carbohydrate metabolism, generates NADP
|
|
|
sources of vitamine B1 (thiamine)
|
milk, vegetables, cereals, fruits, eggs
|
|
|
riboflavin deficiency
|
glossitis, keratitis, conjunctivitis, photophobia, seborrhea
|
|
|
function of riboflavin
|
FAD (electron transport), normal tissue maintenance, general growth, energy production
|
|
|
sources of riboflavin
|
liver, kidney, milk, cheese, eggs, leafy vegetables, cow milk 5x more than breast milk
|
|
|
Niacin deficiency
|
pellagra- classic triad (dermatitis, diarrhea, dementia)
depression |
|
|
Pellagra
|
dermatitis, diarrhea, dementia
Niacin deficiency |
|
|
Function of niacin
|
NAD, NADP cofactors
Glycolysis Electron transport |
|
|
Sources of Niacin
|
liver, lean pork, salmon, poultry, red meat
|
|
|
B6 pyridoxine deficiency
|
convulsions in infants, peripheral neuritis, dermatitis, anaemia
|
|
|
Source of pyridoxine
|
milk, cereals
|
|
|
Functions of pyridoxine
|
coenzyme for decarboxylation and transamination of amino acids, needed for adequate nervous system function and normal brain metabolism
|
|
|
Vitamin C defciency (ascorbate)
|
scurvy: bleeding, loose teeth, easy fractures, swelling of gums, anaemia, sternal depression
costochondral rosary |
|
|
Functions of vitamin C (ascorbate)
|
reducing agent in enzyme systems; formation of collagen and chondroitin sulfate
|
|
|
Vitamin D deficiency
|
Rickets- osteomalacia
tetany |
|
|
Vitamin E (alpha tocopherol) deficiency
|
creatinuria, focal necrosis of striated muscle, weakness, premature- hemolytic anaemia, increased platelet count
|
|
|
functions of vitamin E (alpha tocopherol)
|
nucleic acid metabolism
|
|
|
vitamin K function
|
oxidative phosphorylation
clotting factors |
|
|
vitamin K deficiency
|
hemorrhage
|
|
|
sources of vitamin K
|
naturally occurring (K1), bacteria (K2), liver, soybean, alfalfa, spinach, tomatoes, kale
|
|
|
5 main skill areas
|
visual-motor, language, motor, social, adaptive
|
|
|
Mental retardation
|
IQ<70-75 plus related limitation in at least two adaptive skills e.g. self care, home living, work, communication
|
|
|
Developmental assessments should be corrected for prematurity up until...
|
2 years of age
|
|
|
An infant can sit up with its back straight, has started crawling, has a pincer grasp, and plays peek-a-boo. What age is most appropriate for this baby?
|
9mnths
|
|
|
moro reflexes
|
extend head results in extension, flexion of arms, legs
birth to 4-6mo |
|
|
grasp reflex
|
finger in palm results in hand, elbow, shoulder flexion
birth to 4-6mo |
|
|
rooting reflex
|
cheek stimulus leads to turning mouth to that side
birth to 4-6mo |
|
|
trunk incurvation reflexes
|
withdrawal from stroking along ventral surface
birth to 6-9 mo |
|
|
placing reflex
|
steps up when dorsum of foot stimulated
birth to 5-6mo |
|
|
Tonic head reflex
|
fencing posture when supine
birth to 4-6 mo |
|
|
Parachute reflex
|
simulate fall results in arm extension
6-8mo- never |
|
|
sustained social smile
|
by 3 mo
|
|
|
roll over, creep, crawl
|
6 mo
|
|
|
sits alone, back striaight
|
9 mo
|
|
|
pincer grasp
|
9 mo
|
|
|
cruises, may stand
|
12 mo
|
|
|
one or more words
|
12mo
|
|
|
walks alone
|
15 mo
|
|
|
3 cube tower
|
15 mo
|
|
|
4 cube tower
|
18 mo
|
|
|
10 words, seeks help, "No", knows body parts
|
18 mo
|
|
|
runs well, up/down stairs (one step)
|
2 years
|
|
|
2-3 word sentences
|
2 yrs
|
|
|
repeated or chronic ingestion of non-nutritive substances e.g. pain, dirt after 2 years
|
pica
|
|
|
What increases risk of Pica
|
metardation retardation
lack of parental nurturing low SES lead poisoning, iron deficiency, parasitic infections |
|
|
enuresis
|
voluntary or involuntary repeated discharge of urine after a developmental age when bladder control should be present (most of age of 5 years)
|
|
|
Primary enuresis
|
non significant dry period; most common and usually nocturnal. Hyposecretion of ADH and/or receptor dysfunction, anatomic malformations, abnormal bladder function
|
|
|
Secondary enuresis
|
voluntary or involuntary repeated discharge of urine after period of dryness (usually >6mnths)
causes: psychological, urinary tract infection, constipation, diabetes |
|
|
Encopresis
|
passage of feces in inappropriate places after a chronologic age of 4 years, or equivalent development level; psychological (toliet phobia), early toliet training, agressive management of constipation, painful defecation, fissures
|
|
|
When is sleep walking more common?
|
first 1/3 of night, during slow-wave sleep
more common in children |
|
|
when are nightmares most common
|
last 1/3 of night, REM sleep
more common in children |
|
|
sleep walking and sleep terrors
|
first 1/3 of night during slow wave sleep; no daytime sleepiness or recall. High arousal threshold (agitated if awakened) common family Hx, displaced form bed
|
|
|
nightmares
|
occur last 1/3 of night, REM sleep, daytime sleepiness (if prolonged waking) and vivid recall, low arousal threshold (easily awakened), no family Hx, may be displaced from bed, very common
|
|
|
Autism
|
develops before 36 mnths; usually dx 18mo
Qualitative impairment in verbal and non verbal communication, in imaginative activity and social interactions |
|
|
Clinical findings in autism
|
failure to attach as infants, delayed/absent social smile, failure to anticipate interactions, delay in verbal/nonverbal skills, echolalia, sterotypical movements/sameness, outbursts of anger, self-injury, solitary play, possible mental retardation
|
|
|
A 12mnth old with barky cough. 3/7 hx runny nose, fever and cough. Dx?
|
croup (parainfluenza types 1, 2, 3)
|
|
|
classic xray finding in croup
|
steeple sign
|
|
|
viral laryngotracheitis
|
croup (parainfluenza)
|
|
|
when is the peak incidence of croup
|
1-2 yrs
|
|
|
Mx of croup
|
oral corticosteroid: dexamethasone (0.15-0.3mg/kg)
Nebulised adrenaline 1:1000 (0.5ml/kg; max 5mL) |
|
|
what organisms are implicated in epiglottis?
|
strept pyogenes, strept pneumoniae, staph aureus, mycoplasma
|
|
|
2 y.o. has high fever, difficulty swallowing, hoarse voice. Pt is sitting in tripod position, is drooling, has expiratory stridor, nasal flaring and suprasternal retractions. Dx?
|
epiglottis with respiratory distress
|
|
|
classic xray finding in epiglottis?
|
thumb sign
|
|
|
bacterial tracheitis
|
s. aureus, <3yrs old, often after viral URTI, inflammation (mucosal swelling at cricoid cartilage, copious thick purulent secretions with pseudomembranes)
|
|
|
brassy cough, high fever, respiratory distress. No drooling or dysphagia. Dx?
|
bacterial tracheitis
|
|
|
laryngomalacia
|
collapse of supraglottic structures inward during inspiration; starts in 2 wks of life, and symptoms increase up to 6mnths, typically exacerbated by any exertion
|
|
|
what is most common side of foreign body aspiration?
|
>1yr of age= trachea
<1yr of age= right main bronchus |
|
|
4 year old with sudden onset coughing, hoarseness and SOB
|
foreign body aspiration
|
|
|
6mo boy presents 3/7 hx of URTI, wheezy cough, SOB. On exam, patient has Temp 39, RR 60, nasal flaring, accessory muscle usage. Oxygen sates 92%
|
Bronchiolitis (RSV 50%)
|
|
|
infective agents in bronchiolitis
|
RSV, parainfluenza, adenovirus, mycoplasma
|
|
|
what is the typical age of presentation with bronchiolitis?
|
< 2 yrs (most severe in 1-2mnths old)
|
|
|
Pathology underlying bronchiolitis?
|
inflammation of small airways (inflammatory obstruction: edema, mucus, cellular debris) - ball-valve obstruction - air trapping and overinflation
|
|
|
Examination findings in bronchiolitis
|
wheezing, increased work of breathing, fine crackles, prolonged expiratory phase
|
|
|
what is the average duration of bronchiolitis infection
|
average 12 days (worse in first 2-3)
|
|
|
what are complications of bronchiolitis?
|
pneumonia, bacterial superinfection, respiratory insufficiency and failure
|
|
|
xray findings in bronchiolitis
|
hyperinflattion with patchy atelectasis (may look like early pneumonia)
|
|
|
Are steroids useful in bronchiolitis?
|
No
|
|
|
are nebulised beta-2 agonists useful in bronchiolitis?
|
yes, if in respiratory distress
|
|
|
Define pneumoniae
|
inflammation of the lung parenchyma
|
|
|
what is the most common cause of pneumoniae in children younger than 5 yrs?
|
viral: RSV, parainfluenza, influenza, adenovirus
|
|
|
What is the most common cause of pneumoniae in children over 5 yrs?
|
non-viral: s. pneumoniae, m. pneumoniae, C. pneumoniae.
|
|
|
staccato cough with peripheral eosinphilia in setting of pneumoniae with insidious onset?
|
chlamydia trachomatis pneumoniae (rare)
|
|
|
3 y.o. white girl presents with rectal prolapse. She is less than 5th % for weight and height. THe parents also note that she has a foul-smelling bulky stool. Dx?
|
cystic fibrosis (CF)
|
|
|
etiology of cystic fibrosis?
|
autosomal recessive; mutation in CFTR chromosome 7
|
|
|
pathology of cystic fibrosis
|
membranes of CF epithelial cells unable to secrete Cl- in response to cyclic adenosine monophosate- failure to clear mucous secretions, viscous secretion
|
|
|
what % of CF patients have meconium ileus?
|
15-20%
|
|
|
fat-soluble vitamin deficiency
|
ADEK
|
|
|
what is the chief determinant of mortality and morbidity?
|
rate of progression of lung disease
|
|
|
examinations findings in cystic fibrosis
|
increased AP diameter, hyper-resonance, rales, clubbing, expiratory wheezing, cyanosis (late), sinuses almosty always opacified
|
|
|
xray findings in cystic fibrosis
|
hyperinflation of chest, nodular densities, patchy atelectasis, confluenct infiltrates, hilar nodes.
Severe: flattening of diaphragm, sternal bowing, narrow cardiac shadow, cysts, extensive bronchiectasis |
|
|
guthrie test
|
immunoreactive trypsinogen in blood spot
|
|
|
SIDS
|
sudden death of an infant, unexplained by Hx; unexplained by thorough postmordem exam including autopsy, investigation of death scene and review of medical Hx
|
|
|
Pathological findings in SIDS
|
petechial haemorrhages, pulmonary haemorrhage, pulmonary edema
|
|
|
define allergic rhinitis
|
nasal congestion/pruritis, worse at night with snoring, mouth-breaking, watery, itchy eyes, postnasal drip with cough, possible wheeze not explained by illness or structural abnormalities
|
|
|
Common Infective agent in croup
|
PSV 1, 2, 3
|
|
|
When is croup most common
|
3 month- 5yrs
more common in winter |
|
|
Baby presents with URT 1-3days, then barking cough, hoarseness, inspiratory stridor, worse at night, gradual resolution over 1 wk. Most likely Dx?
|
Croup
|
|
|
Steeple sign
|
croup
|
|
|
2 yo presents with high fever, sore throat and difficulty swallowing. Patient is sitting in tripod position, drooling with expiratory stridor, nasal flaring and retractions. Dx?
|
epiglottitis
|
|
|
Most common infective agent in epiglottitis?
|
Hib
Strept pyogenes, streptococcus pneumoniae, Staph aureus, mycoplasma |
|
|
Tripod, sniffing-position, toxic, difficulty swallowing. Unimmunised. Dx?
|
Hib epiglottitis
|
|
|
Thumb sign
|
epiglottitis
|
|
|
Most common cause of bacterial tracheitis?
|
s. aureus
|
|
|
2yr old with brassy cough, high fever, respiratory distress, but no drooling or dysphasia. Viral URT for 1 week.
Dx? |
bacterial tracheitis
|
|
|
What is the most frequent cause of chronic stridor in kids?
|
laryngomalacia
|
|
|
Collapse of supraglottic structures inward during inspiration is called...
|
laryngomalacia
|
|
|
What symptom is dominant in acute bronchitis?
|
cough
|
|
|
Pathology underlying acute bronchitis?
|
inflammation of tracheobronchial epithelium (usually viral)
|
|
|
Bronchiolitis is caused (most commonly) by....
|
RSV 50%
also parainfluenza, adenovirus, Mycoplasma |
|
|
Inflammation of the small airways (edema, mucus, cellular debris), ball-valve obstruction, air-trapping and overinflation is underlying pathology in...
|
bronchiolitis (RSV viral infection)
|
|
|
What role do steroids have in Mx of bronchiolitis
|
NONE
|
|
|
inflammation of the lung parenchyma is also called...
|
pneumonia
|
|
|
Patient has pneumonia. CXR shows hyperinflation with bilateral interstitial infiltrates and peribronchial cuffing. What is most likely etiology?
|
viral
|
|
|
Patient has pneumonia. CXR shows confluent lobar consolidation. What is most likely etiology?
|
pneumococcal
|
|
|
A 3 year old white girl presents with rectal prolase. She is noted to be less than 5th % for weight and height, a chronic cough and floating foul-smelling bulky stool. What is Dx?
|
cystic fibrosis
|
|
|
Inheritance of CF
|
autosomal recessive
|
|
|
What is the distribution pattern of ezcema?
|
infancy: face, scalp, extensor
older: flexural |
|
|
Chronic ezcema is characteristed by...
|
lichenifcation
|
|
|
What is the underlying pathology of contact dermatitis
|
Delayed hypersensitivity reaction (type IV)
|
|
|
Reed-Sternberg
|
Hodgkins
|
|
|
Rouleaux
|
Multiple myeloma
|
|
|
Howell-Jolly
|
Splenectomy, hyposplenism, haemolytic anaemia
|
|
|
Heinz body
|
G6PD deficiency
|
|
|
Bashophilia stippling
|
lead intoxication
thallasaemia |
|
|
raised MCV
|
liver disease, alcoholism, B12/folate deficiency
|
|
|
decreased MCV
|
thallaesaemia, anaemia of chronic disease, iron deficiency, lead intoxication, sideroblastic
|
|
|
alphaHb
|
Chr16
|
|
|
betaHb
|
chromosome 11
|
|
|
sickle cell
|
alpha Hb mutation
Glu-Val |
|
|
5Hs of haemophilia
|
Haemarthosis
Haematoma Haematochezia Haematuria Head haemorrhage |
|
|
HIT onset
|
5-15 days after heparin
|
|
|
Reye's syndrome
|
acute noninflammatory encephalopathy
fatty degenerative liver failure typically occurs after a viral illness and is associated with the use of aspirin during the illness |
|
|
Aspirin + viral illness + encephalopathy + fatty liver disease
|
Reye's syndrome
|
|
|
Howell-Jolly bodies present
|
asplenia
|
|
|
A 3wk old infant presents with generalised seizure. On physical examination the patient has hypertelorism, low-set ears, micrognathia and a fish mouth
|
Di George syndrome
|
|
|
Dysmorphogenesis of the 3rd and 4th pharyngeal pouches is associated with what syndrome?
|
Di george syndrome
|
|
|
CATCH-22
|
Cardiac, Abnormal facies, thymic hypoplasia, cleft palate, hypocalcaemia
|
|
|
What causes hypocalcaemia in Di george syndrome?
|
Parathryoid hypoplasia
|
|
|
Wiskott-Aldrich syndrome (Mr. Text)
|
IgM low, recurrent infection, thrombocytopenia, eczema, X-linked, T and B cell deficiencies
|
|
|
A 1 year old infant presents to his physician with severe eczema. On physical examination, the patient is noted to have draining ears as well as a petechial rash. Pt has Hx of recurrent infections including otitis media and pneumonia
|
Wiskott-Aldrich syndrome
|
|
|
Inheritance of Wiskott-Aldrich syndrome
|
X-linked recessive
(WASP) |
|
|
A 3yo presents with ataxia, mask-like facies, drooling, tics and irregular eye movements. According to the mother, the ataxia began at approximately 1 year of age and recurrent respiratory infections. On examination, patient has telangiectasias.
|
Ataxia telangiectasia (A-T mutation on chromosome 11; protein kinase) High incidence of malignancies- lymphoreticular but also adenocarcinoma
|
|
|
Chronic granulomatous disease (CGD)
|
x-linked and AR
phagocytic defect recurrent lymphadenitis, pneumoniae and skin infections, osteomyelitis. Increased infections with catalase-positive organism e.g. s. aureus |
|
|
Causes of leucokoria
|
retinoblastoma
cataract retinopathy of prematurity retinal detachment larval granulomatosis |
|
|
Causes of cataracts
|
prematurity (many diappear in a few wkks)
inherited - most AD congenital infection (TORCH; usually rubella) Galactosemia chromosomal (trisomies, deletion, duplications, XO) steroids, contusions, penetrations |
|
|
Causes of Ectopia lentis
|
trauma - most common
Uveitis, congenital glaucoma, cataract, aniridia, tumor Marfan syndrome, homocystinuria, Ehlers-Danlos |
|
|
A 12hr newborn is noted to have bilateral conjunctival injection, tearing and some swelling of the left eyelid.
|
ophthalmia neonatorum
(first day silver nitrate, erythromycin; first wk gonorrhea, second wk chlamydia) |
|
|
Congenital nasolacrimal duct obstruction
|
failure of calalization of duct as it enters the nose
Excessive tears, mucoid material that is produced in the lacrimal sac, erythema. Most resolve <1 year of age |
|
|
Complications of N- gonorrhea
|
corneal ulceration, performation, iridocyclitis
|
|
|
Mx of N. gonorrhea conjunctivitis
|
ceftriaxone
|
|
|
Keratitis suggests corneal involvement. What are causative organisms?
|
H. simplex, adenovirus, S. pneumoniae, S. aureus, pseudomonas, chemicals
|
|
|
Causes of retinopathy of prematurity (ROP)
|
prematurity, hyperoxia, general illness
|
|
|
Retinopathy of prematurity
|
mild to severe progressive vasoproliferative scarring and blinding retinal detachment
|
|
|
Mx of retinopathy of newborn
|
cryosurgery or laser photocoagulation
|
|
|
what is the most common primary malignant intraoculur tumor
|
retinoblastoma
|
|
|
What is average age of diagnosis of retinoblastoma?
|
bilateral 15mnth
unilateral 25 mnths |
|
|
What is most common cause of otitis externa
|
pseudomonas aeruginasa
s. aureus |
|
|
augmentin
|
amoxicillin + clavulinic acid
|
|
|
Otitis media with effusion (OME)
|
occurs after repeated infections with insufficient time for effusion to resolve. Assess hearing if effusion >3mnths
|
|
|
acquired cholesteatoma
|
cyst-like growth within middle ear or temporal bone; lined by keratinized, stratified squamous epithelium
|
|
|
A newborn is noted to be cyanotic. On stimulation, he cries and becomes pink again. The nurse has difficulty passing a catheter through the nose
|
choanal atresia
|
|
|
50% of patient presenting with choanal atresia have what syndrome?
|
CHARGE: coloboma, heart defects, atresia choanae, retarded growth and development, genital anomalies, ear anomalies
|
|
|
What area most commonly bleeds during epistaxis
|
anterior septum (Kiesselbach plexus)
digital trauma, dry air, allergy, inflammation (esp with URI), nasal steroid sprays |
|
|
Polyps
|
benign pedunculated tumors from chronically inflamed nasal mucosa.
|
|
|
when does the posterior fontanelle usually close?
|
first few months of life
|
|
|
when does the anterior fontanelle usually close?
|
18-24mnths
|
|
|
premature closure of cranial sutures is called...
|
synostosis
|
|
|
What deformity has INCREASED since the 'Back to sleep' SIDS campaign
|
deformational plagiocephaly
|
|
|
Complications of untreated otitis media?
|
hearing loss
mastoiditis meningitis delayed speech/language development |
|
|
who are at highest risk of chronic middle ear disease?
|
Indigenous australians
mid-face abnormalities and cleft palate |
|
|
RF for otitis media
|
age (6mnths-2yrs), parental smoking, breastfeeding <6mnths, family Hx AOM, atopy, wet season/winter, use of pacifiers, having siblings, child care
|
|
|
What % of chronic suppurative otitis media are considered to be a public health emergency by WHO?
|
>4%(5x this cutt-off level have been documented repeatedly in Indigenous children)
|
|
|
What causes effusion in setting of otitis media with effusion (OME)
|
eustachian tube dysfunction causing negative pressures occurring in the middle-ear cavity, which draws in fluid
|
|
|
What is the only reliable technique to Dx presence of fluid in middle ear
|
pneumatic otoscopy and tympanometry
|
|
|
Visualisation of air bubbles in the middle ear indicates
|
air-fluid interface of effusion
|
|
|
pneumatic otoscopy
|
airtight seal, small jet of air forced into external ear canal, movement of eardrum assessed
|
|
|
What % of boys have undescended testes at birth?
|
4-5%
1-2% by 3mnths |
|
|
What is cryptorchidism?
|
absence of one or both testes in scrotum
|
|
|
Risk factors for congenital undescended testis
|
intrauterine growth retardation
prematurity exposure to excessive estrogens during pregnancy |
|
|
Risk factor for developing strabismus
|
low birth weight <1.24g
family Hx of strabismus Neuromuscular disorders Congenital ocular abnormality retinoblastoma cataracts head injury infections (meningitis, encephalitis, measles) |
|
|
6 yr old girl with rapid onset severe sore throat and fever, headache and GI symptoms. Exam: red pharynx, tonsilar enlargement with yellow, blood-tinged exudate, strawberry tongue. What is most likely Dx?
|
strep pharyngitis
|
|
|
Scarlet fever
|
from GABHS that produce pyrogenic exotoxins. Pharyngitis, fever, diffuse red, finely papular rash
|
|
|
causes of lymphadenitis
|
infection (viral/bacterial pharyngitis, cat scratch disease, Tb/atypical mycobacteria, mumps, thyroglossal duct cyst, branchial cleft cysts) cystic hygroma, tumors (rare)
|
|
|
indications for tonsillectomy
|
> documented infections within the past year
5/year for 2 yrs 3/year for 3 yrs unilateral enlarged tonsil (neoplasm) OSA |
|
|
Antenatal US detects renal anomalies in what % of fetuses
|
1%
|
|
|
Day 1 creatinine in the newborn reflects...
|
the mother's
|
|
|
What is the expected GFR in a 60months old?
|
<100 (~reaches 100 by 1 year)
|
|
|
Systolic blood pressure in a child under 1 should not be greater than 100 T/F
|
True
|
|
|
Blood pressure slowly increases with age T/F
|
True
|
|
|
Urine output increases in the first few days of life. What is significance of this?
|
There is no point doing Day 1 US as urine output may not be sufficient to show an abnormality
|
|
|
What is Micturating cystourethrogram (MCUG/VCUG)
|
contrast instilled into bladder using catheter, patient voids
Detects vesico-ureteric reflux, Posterior urethral valves |
|
|
What is a DMSA scan in renal medicine
|
nuclear medicine, renal structure and function
Gives % of renal function Useful for multicystic dysplastic kidneys, abnormal location or structure |
|
|
Can you see the bladder in a MAG3
|
Nuclear medicine test
Yes (you cannot see a bladder on DMSA) |
|
|
UTI more common in girls or boys?
|
M>F in first 6-12mnths (abnormality)
>12yrs more common in boys |
|
|
What % of UTI recur in children?
|
1/3, most within 1 yr
|
|
|
pseudomonas UTI is suggestive of...
|
underlying pathology: structural, immune deficit
|
|
|
What is the most common organism implicated in UTI?
|
E.coli >80%
10-15% Klebsiella Enterobacter, Proteus, Pseudomonas |
|
|
What is the most common cause of recurrent UTI in children?
|
dysfunctional voiding
Mx increase fluids, bladder re-training, complete bladder emptying, avoid irritants. |
|
|
How do you obtain a urine sample in infants?
|
clean catch
or in-out catheter suprapubic tap rarely performed |
|
|
Afebrile cystitis should be treated with
|
cephalexin PO for 3 days
Sulfamethoxazole/Trimethoprim (Bactrim) |
|
|
Bactrim
|
sulfamethoxazole/trimethoprim
|
|
|
What is the advantage of bactrim over cephalexin in treatment of UTI?
|
with bactrim, active metabolites are secreted in urine
|
|
|
What is the Mx of a child with UTI who is <1mnth old or very unwell
|
IV ampicillin + gentamicin
|
|
|
List UTI prevention methods
|
Regular fluids and voiding
Avoid/treat constipation Avoid caffeinated drinks Cranberry supplements Correct wiping |
|
|
What Mx is recommended for boys with recurrent UTIs?
|
circumcision
(prophylactic Abx not generally recommended) |
|
|
Should US be performed in a child <6mnth with a typical UTI?
|
Yes, within 6 wks of infection
(DMSA, MCUG not required) |
|
|
Should US be performed in a child >6mnts with a typical UTI?
|
No (US is indicated if recurrent or atypical type)
|
|
|
Should asymptomatic bacteriuria be treated with antibiotics?
|
No symptoms, no antibiotics.
|
|
|
Odema + proteinuria. Nephrotic or nephritic
|
nephrotic
|
|
|
Haematuria, red cell casts in urine, raised creatinine. Nephrotic or nephritic?
|
Nephritic
|
|
|
Hypoalbuminaemia, heavy proteinuria, edema and hypercholesterolaemia. What is Dx?
|
nephrotic syndrome
|
|
|
70-80% of children with nephrotic syndrome present before 6yrs. What is the relapse rate?
|
70-80%
|
|
|
What is the most common cause of nephrotic syndrome in kids?
|
minimal change nephrotic syndrome
|
|
|
How is minimal change nephrotic syndrome treated?
|
steroids
|
|
|
List factors which suggest a presentation of nephrotic syndrome in a child is NOT MCNS
|
renal impairment, significant hypertension, age<1yr and >10yr, macroscopic or persistent microhaematuria,
red cell casts in urine, family history of NS, "sydnromic" child, steroid resistance |
|
|
Mx of first episode nephrotic syndrome
|
Oral prednisone for 4wks
Home urine testing, keep diary fluid restriction until remission no added salt diet pneumococcal vaccine |
|
|
Complications of nephrotic syndrome in children
|
Infection (urinary loss of Ab, complement T cell dysfunction)
Thromboembolic (increased synthesis of clotting factors, loss of coagulation inhibitors) Cardiovascular Drug side effects |
|
|
6 yr old boy with gross haematuria and decreased urine out. Mum thinks he has put on weight.
BP 130/86 Creat 105, Urea 11, Na 134, K 5.6 |
acute nephritis
(most common cause: post-infectious) |
|
|
A 3wk old infant presents with generalized seizure. Exam reveals hypertelorism, low-set ears, micrognathia, fish mouth. What is Dx?
|
Di George syndrome (microdeletion ch22)
Dysmorphogenesis of 3rd/4th pharyngeal pouches Thymic hypoplasia, tetany, anomalies of great vessels, mandibular hypoplasia |
|
|
SCID
|
absence of all adaptive immune function and perhaps NK function. Classic presentation- first few months of life- diarrhoea, pneumonia, otitis media, sepsis, cutaneous infection, extreme wasting, small or no thymus, absent lymphoid tissue. X-linked most common
|
|
|
Wiskott-Aldrich syndrome (Mr. Text)
|
IgM low, recurrent infection, thrombocytopenia, eczema, X-linked, T and B deficienies
|
|
|
Chronic granulamtous disease
|
x-linked and AR
Phagocytic disorder: Neutrophils and monocytes can ingest but not kill catalase-positive microorganisms Recurrent lymphadenitis, pneumonia, skin infections, osteomyelitis at multiple sites |
|
|
Catalase-positive organisms
|
s. aureus
s. marcescens b. cepacia aspergillus c. albicans salmonella |
|
|
ear tags are associated with
|
cleft lip
|
|
|
ear pits are associated with...
|
hearing problems
|
|
|
gross ear abnormalities are associated with...
|
renal associations
|
|
|
Is acute otitis media more likely to be viral or bacterial?
|
bacterial (75%)
S. pneumoniae 40% H influenza, Moraxella catarrhalis |
|
|
CHARGE
|
coloboma, heart defects, atresia choanae, retarded growth and development, genital anomalies, ear anomalies
|
|
|
benign pedunculated tumors from chronically inflamed nasal mucosa (usually from ethmoid sinus external to middle meatus_
|
polyps
|
|
|
Samter triad
|
polyps, aspirin sensitivity, asthma
|
|
|
hyponasal speech, mouth breathing, profuse mucopurulent rhinorrea and Hx of recurrent sinusitis
|
polys
|
|
|
What are complications of untreated sleep apnoea in children
|
heart failure (RVH)
developmental delay poor growth death |
|
|
What is the most common cause of sleep apnoea in children?
|
adenotonsillar hypertrophy
|
|
|
Child presents with mouth breathing, snoring, restlessness, daytime somnolence and poor school performance. What is Dx?
|
obstructive sleep apnoea
|
|
|
What lab findings might you find in obstructive sleep apnoea in children
|
polycythemia, chronic respiratory acidosis with metabolic compensation
|
|
|
Give examples of CHD with right to left shunt
|
tetralogy of fallot
transposition of great arteries tricuspid atresia |
|
|
Give examples of left to right shunt
|
patent ductus
VSD ASD |
|
|
VSDs are common in which syndromes
|
down, edward, patau, aperts
|
|
|
A 3mnth old child presents with poor feeding, poor weight gain and tachypnea. Exam reveals a harsh, pansystolic 3/6 murmur at the left lower sternal border and hepatomegaly. What is Dx?
|
ventricular septal defect
|
|
|
what is the most common congenital heart lesion?
|
ventricular septal defect (VSD)
|
|
|
When pulmonary vascular resistance is greater than systemic vascular resistance in the setting of VSD, what syndrome occurs?
|
Eisenmenger syndrome
|
|
|
Eisenmenger syndrome
|
PVR>SVR with VSD
untreated left-to-right shunt becomes bidirectional or right to left. Cyanosis. Results from high pulmonary blood flow, causing hypertrophy of pulmonary vessels and increased PVR |
|
|
Murmur in VSD
|
harsh halosystolic murmur over left sternal border +/- thrill; loud pulmonic S2
|
|
|
What test provides definitive Dx of VSD?
|
Echocardiogram
|
|
|
Is a muscular or membranous VSD likely to close first? (assume same size)
|
muscular more likely to close in first 1-2 yrs than membranous
|
|
|
When is surgery indicated for VSD?
|
large defects, pulmonary artery hypertension, failure to thrive, Qp:Qs>2:1 in a child >2yrs
|
|
|
Complications of VSDs
|
heart failure, failure to thrive (usually large defect)
endocarditis pulmonary HTN |
|
|
What is the most common atrial septal defect?
|
ostium secundum defect (fossa ovalis)
|
|
|
Presentation of ASD in children?
|
Often few symptoms
Exercise intolerance |
|
|
Murmur associated with ASD?
|
Loud S1, wide fixed splitting of S2
Systolic ejection murmur along left mid-to upper sternal border from increased pulmonary flow. |
|
|
Wide fixed splitting of S2 is most likely...
|
ASD
|
|
|
Is ASD associated with systolic or diastolic murmur?
|
systolic ejection murmur (increased pulmonary flow)
|
|
|
ECG findings in ASD
|
right axis deviation and minor right-ventricular conduction delays
|
|
|
What is an endocardial cushion defect
|
both ASD and VSD (contiguous) + AV valves are abnormal
|
|
|
What is the presentation of endocardial cushion defect?
|
possible mild, intermittent cyanosis
early heart failure, infections, hepatomegaly and failure to thrive possible precordial bulge and lift |
|
|
A persistent PDA is concerning after what age?
|
after 1 wk of life
|
|
|
Exam findings in patent ductus arteriosus
|
If large: wide pulse pressure , bounding 'machinery' pulse
|
|
|
ductus arteriosus
|
connection between pulmonary artery to proximal descending aorta
|
|
|
What nerve loops posteriorly around the ductus to ascend behind the aorta en route to the larynx?
|
recurrent laryngeal nerve
|
|
|
What does the ductus produce to promote patency during foetal development?
|
prostaglandin E2
|
|
|
In which direct is the shunt created in patent ductus arteriosus?
|
left to right
|
|
|
What is the most common heart defect associated with Noonan syndrome (12a24.1)
|
pulmonic stensois; pulmonary ejection click after S1
|
|
|
Inheritance of Noonan syndrome
|
autosomal dominant
|
|
|
Whats the most common cause of aortic stenossis
|
bicuspid aortic valve
|
|
|
Murmur in aortic stenosis
|
early systolic ejection click at apex of left sternal border (does not vary with respiration)
|
|
|
Examination findings in aortic stenosis
|
with increasing severity- decreased pulses, increased heart size, left ventricular apical thrust
|
|
|
ECG findings in aortic stenosis?
|
left ventricular hypertrophy
|
|
|
Coarctation of the aorta has a high association with what syndrome?
|
Turner syndrome (70% with bicuspid aortic valve)
|
|
|
Define coarcation of aorta
|
narrowing at any point from transverse arch to iliac bifurcation; 90% just below origin of the left subclavian artery at origin of ductus arteriosus (juxtaductal coarctation)
|
|
|
Normally, leg systolic pressure is 10-20mmHg higher than in arms, what occurs in coarctation of aorta?
|
leg systolic pressure is decreased (>5%)
|
|
|
Blood pressure greater in right arm than left is suggestive of...
|
coarctation involving the left subclavian artery
|
|
|
Patients with coarctation of aorta have hyper- or hypo- tension?
|
hypertension (mechanical + neurohormonal causes)
|
|
|
Differential diagnosis- upper body is pink, lower is cyanotic is suggestive of what Dx?
|
coractation of aorta
|
|
|
A neonate has episodes of restlessness, cyanosis and gasping respirations. Symptoms resolve when he is plaed in the knee-chest position. Physical examination reveals pansystolic mumur and a single second heart sound. Dx?
|
Tetralogy of Fallot
|
|
|
Components of tetralogy of fallot
|
pulmonary/infundibular stenosis
VSD Overriding aorta Right ventricular hypertrophy |
|
|
What is the most common cyanotic lesion of childhood?
|
tetralogy of fallot
|
|
|
why does knee-chest or squatting position improve symptoms in tetralogy of fallot?
|
increases systemic vascular resistance and decreases left-to-right shunt
|
|
|
Examination findings in tetralogy of fallot
|
substernal right ventricular impulse, systolic thrill along 3rd to 4th intercostal space on left sternal border, loud and harsh systolic ejection murmur, either a single S2 or soft pulmonic component
|
|
|
boot-shaped heart "coeur en sabot" is caused by
|
hypertrophied right ventricle causes apex to be uplifted above the diaphragm; tetralogy of fallot
|
|
|
What is tricuspid atresia
|
no outlet from the right atrium to the right ventricle; entire systemic venous return enters the left atrium from a foramen ovale or ASD; left ventricular blood to right ventricle via a VSD
|
|
|
What is an ebstein anomaly
|
development associated with maternal lithium use; downward displacement of abnormal tricuspid valve into right ventricle; right atrium is huge; tricuspid valve regurgitant
|
|
|
Name a cyanotic CHD with increased pulmonary blood flow?
|
transposition of the great arteries (TGA)
|
|
|
Describe defect in transposition of the great arteries?
|
aorta arises from the right ventricle, pulmonary artery from the left ventricle; 2 parallel circuits NEED foramen ovale/PDA for some mixture of desaturated and oxygenated blood
|
|
|
Clinical presentation of transposition of great arteries (TGA)
|
With intact septum: as PDA starts to close, severe cyanosis and tachypnea
S2 usually single and loud; murmurs absent or soft systolic ejection murmur at midleft sternal border |
|
|
Mx of transposition of great arteries
|
PGE (keep PDA patent)
Balloon atrial septostomy Atrial switch surgery in first 2 wks |
|
|
What is truncus arteriosus
|
single arterial trunk arises from the heart and supplies all circulations. Truncus overlies a ventral septal defect (always present) and receives blood from both ventricles (total mixing)- both ventricles are systemic pressure
|
|
|
What is Hypoplastic left heart syndrome?
|
Atresia of mitral or aortic valves, left ventricle and ascending aorta (or any combination). Right ventricle maintains both pulmonary and systemic circulation
|
|
|
mitral valve prolapse
|
abnormal cusps- billowing of one or both leaflets into left atrium toward end of systole (congenital defect) usually not recognizable until adult; girls>boys
|
|
|
Mitral valve prolaspe is a common finding in what syndrome?
|
Marfan
|
|
|
Apical late systolic murmur, preceded by a click- in standing or sitting, click may apaear earlier in systole and murmur may be more prominent. Dx?
|
mitral valve prolapse
|
|
|
Teenage girl presents with palpitations. ECG: multifocal premature ventricular contractions induced on stress testing. Exam reveals apical late systolic murmur, preceded by a click. Dx?
|
mitral valve prolapse
|
|
|
A 6 yr old boy has high intermittent fevers for 3 wks, accompanied by chills. He has a past Hx of bicuspid aortic valves and recently had dental work.
|
bacterial endocarditis.
Most likely streptococcus viridans |
|
|
Osler nodes
|
tender, pea-sized, intradermal nodules on pads of fingers and toes
|
|
|
Janeway lesion
|
painless, smalll erythematous hemorrhagic lesions on palms an soles
|
|
|
Splinter hemorrhage
|
linear lesions beneath nail beds
|
|
|
Roth spots
|
retinal haemorrhages with white centrers (suggest infective endocarditis)
|
|
|
What are skin signs of infective endocarditis?
|
osler nodes
janeway lesions splinter hemorrhage roth spots |
|
|
What criteria is used to Dx of infective endocarditis?
|
Dukes criteria
(2 major or 1major + 3 minor or 5 minor) |
|
|
Dukes criteria
|
Major: positive blood culture (2 separate samples for usual pathogens); ECHO evidence
Minor: predisposing conditions, fever, emboli or vascular signs, immune complex disease (glomerulonephritis, arthritis, positive rheumatoid factor, osler node, roth spots) single positive blood culture Unclear/subtle ECHO signs |
|
|
Complications of infective endocarditis
|
heart failure from aortic or mitral lesions
Systemic or pulmonary emboli myocardial abscess myocarditis valve obstruction heart block meningitis osteomyelitis immune complex glomerulonephritis |
|
|
Mx of infective endocarditis (blood cultures + for streptococcus viridans)
|
penicillin G for 4 weeks
or penicillin (or ceftriaxone) + gentamicin for 2 wks |
|
|
HACEK organisms
|
Slow growing gram-negative organisms that are part of normal flora
Haemophillus. actinobacillus, actinomycetemcomitans, cardiobacterium hominus, eikenella corrodens, kingella kingae |
|
|
6yo girl complains of severe joint pain in her elbows and wrists. She has had fever for the past 4 days. Past Hx reveals a sore throat 1 mnth ago. Exam: swollen, painful joints and heart murmur. Lab: raised ESR. Dx?
|
Rheumatic fever
|
|
|
Jones criteria
|
major: carditis, polyarthritis, erythema marginatum, chorea, subcutaneous nodules
minor: fever, arthralgia, elevated acute phase reactants, prolonged PR interval on ECG, evidence of preceding streptococcus infection |
|
|
hypertrophic cardiomyopathy
|
obstructive left-sided congenital heart disease, decreased compliance, so increased resistance and decreased LV filline, mitral insufficiency.
|
|
|
ECG findings in hypertrophic cardiomopathy
|
LV hypertrophy +/- ST depression and T-wave inversion
|
|
|
Mx of hypertrophic cardiomyopathy
|
no competitive sports or strenuous exercise (increased risk of sudden death)
digoxin and aggressive diuresis are contraindicated beta blockers + CCB |
|
|
Neonatal hypoglycaemia is defined as blood glucose level less than...
|
2.6mmol/L
|
|
|
How do you correct hypoglycaemia in neonate?
|
IV 10% dextrose at 60ml/kg/day
(consider IM glucagon 200mg/kg if IV access delayed) re-check BGL after 30 mins |
|
|
A 7yr old girl presents to office with a 3 wk Hx of progressive dyspnea, malaise and fatigue. She has recentrly recovered from a viral syndrome. Physical examination is remarkable for a pansystolic murmur and hepatomegaly. Dx?
|
myocarditis
|
|
|
What is the most common organism implicated in myocarditis?
|
viral: coxsackie B and adenovirus
(also: bacterial, connective tissue disease, granulomatous disease, toxins, idiopathic) |
|
|
What is pericarditis
|
inflammation leads to accumulation of fluid in pericardial space (serous, fibrinous, purulent, haemorrhagic)
Mostly viral: coxsackie B, adenovirus, influenza, echovirus |
|
|
What is the classica presentation in pericarditis?
|
sharp, stabbing, over precordium and left shoulder and back; worse supine; relief with sitting and leaning forward (referred pain from pleural diaphgramatic irritation)
Friction rub is variable |
|
|
How does BP differ in legs and arms (normal)
|
legs should be 10-20mmHg higher than in arms
|
|
|
What is the most likely cause of persistent hypertension in a neonate with an umbilical artery catheter?
|
renal artery thrombosis
|
|
|
why should tetracyclines be avoided in <7yrs old?
|
brown-yellow discolouration of enamel with hypoplasia
|
|
|
Superior mesenteric artery is at what vertebral level?
|
T12-L1
|
|
|
Renal arteries are at what vertebral level?
|
L1
|
|
|
The umbilical artery is connected to what vessel in neonate circulation?
|
Internal iliac arteries (left and right)
2 arteries, returns deoxygenated blood to maternal circulation |
|
|
Central venous lines are usually inserted into what vessels?
|
subclavian or internal jugular
|
|
|
ductus venosus becomes what adult structure
|
ligamentum venosum
|
|
|
ductus arteriosus becomes what adult structure?
|
ligamentum arteriosus (pulmonary artery to aorta)
|
|
|
Are diaphragmatic hernias more common on right or left?
|
70-90% left
(most posterolateral - Bochdalek) |
|
|
DDx of hilar enlargement on CXR?
|
lymphadenopathy (e.g. chronic infection, malignancy)
mass engorged vessels- pulmonary hypertension |
|
|
CXR findings in CF
|
Hyperinflation, diffuse, bilateral infiltrates, hilar enlargements, bronchiectasis, bullae, abscess, emphyema, sternal bowing, kyphosis, flattening of diaphragm
|
|
|
What investigations can confirm air trapping in foreign body aspiration?
|
decubitous films- lumg with air trapping will not compress
inspiratory/expiratory film |
|
|
How can you tell the difference between complete and partial obstruction by foreign body?
|
complete causes distal atelectasis; partial may cause ball-valve effect- obstructive emphysema
|
|
|
Which cells synthesise surfactant?
|
type 2 pneumocytes
|
|
|
List infectious causes of bloody diarrhoea. (CASES)
|
Campylobacter, amoeba, shigella, E. coli, salmonella
|
|
|
Mx of enterhaemorrhagenic E.coli
|
No Abx in suspected due to increased risk of HUS; supportive care only
|
|
|
Mx of shigella diarrhoea (confirmed)
|
trimetoprim/sulfamethoxazole
|
|
|
Mx of clostridium difficile gastroenteritis
|
metronidazole or vancomycin
discontinue other antibiotics |
|
|
Schwachman-Diamond syndrome
|
pancreatic insufficiency, neutropenia, malabsorption
|
|
|
What is the genetic predisposition related to celiac disease?
|
HLA DQ2
|
|
|
Define the term 'focal seizures'
|
originate within neural networks involving one hemisphere of brain, localized at onset
|
|
|
List examples of generalised seizures?
|
tonic-clonic, absence, myoclonic
|
|
|
At what age does "teething" usually begin?
|
6mnths
|
|
|
How many primary teeth?
|
20
|
|
|
When are all primary teeth present?
|
24-36mnths
|
|
|
When do permanent teeth begin to form?
|
from birth
|
|
|
When do permanent teeth begin to appear in the mouth?
|
6years (28 in place by age 12)
wisdom teeth variable |
|
|
Third molars are also called...
|
wisdom teeth
|
|
|
List 4 elements of the peridontium?
|
gingivae, peridontal ligament, alveolar bone, cementum
|
|
|
define edentulism?
|
loss of all teeth
|
|
|
palmar grasp
|
6mnths
|
|
|
When can grasp a cube?
|
5mnths
|
|
|
rolls over
|
4.5mnths
|
|
|
sits unaided
|
6mnths
|
|
|
stands and weight bears
|
6mnths
|
|
|
When can a child jump and hop?
|
Jumps: 3yo
Hop: 5 yo |
|
|
social smile
|
2-3mnths
|
|
|
Plays peek a boo
|
9mnths
|
|
|
Comes when called at...
|
12mnths
|
|
|
LIst the primitive reflexes
|
sucking/rooting
palmar grasp placing and stepping moro/startle active tonic neck reflex (ATNR) |
|
|
What is the normal BP range of a newborn
|
50-75
|
|
|
List conditions that mimic seizures in infants
|
Breath holding, night terrors, benign paroxysmal position vertigo (BPPV), narcolepsy, pseudoseizures, syncope, tics
|
|
|
Describe infantile spasm
|
onset 4-7mnths; brief contractions of neck, trunk and extremities (flexion and extension) lasting 10-30s, occurs in clusters, often associated with developmental delay.
|
|
|
A 4 wk old boy has non bilious projectile vomiting. Physical examination is remarkable for a small mass palpated in the abdomen. Dx?
|
pyloric stenosis
|
|
|
Epidemiology of pyloric stenosis
|
more common in whiltes of Northern European ancestry, firstborn males; associated with other defects, especially TEF
|
|
|
WHen does pyloric stenosis usually present?
|
>3wks (1 wk -5 mnths)
|
|
|
What is the electrolyte derangement in pyloric stenosis
|
hypochloremic, hypokalemic metabolic alkalosis
|
|
|
Palpation of a firm, moveable, 2cm, olive shaped, hard mass in mid epigastrium in 5 wk old boy suggests?
|
pyloric stenosis
|
|
|
Double bubble sign on abdominal film
|
duodenal atresia
|
|
|
A delay in treating volvulus can result in...
|
short bowel syndrome
|
|
|
What commonly acts as an axis for gut malrotation?
|
superior mesenteric artery
|
|
|
A 2 yo boy presents with a 1 wk Hx of painless rectal bleeding. Physical examination is unremarkabe. The abdomen is soft and nontender. Rectal examination is unremarkable. Dx?
|
meckel diverticulum
|
|
|
Merkel Diverticulum diseases of 2s
|
2 yr of age, 2% of population, 2 types of tissue, 2cm in size, 2 ft from ileocecal valve
|
|
|
Meckel diverticulum is a remnant of
|
embryonic yolk sac (omphalomesenteric or vitelline duct)
|
|
|
A 15mnth old child is seen for cramping, colicky abominal pain of 12h duration. 2 episodes of vomiting and a fever. Exam: lethargic, tender abdomen. Leukocytosis. During examination, the pt passes a bloody stool with mucus. Dx?
|
intussusception: telescoping of bowel; most ileal-colic
Most present at 3mnths-6yrs |
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When does intussusception commonly present?
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3-6yrs (80%<2yrs)
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|
Etiology of intusception?
|
adenovirus or rotavirus; URTI, otitis media.
Associated with HSP Can also occur with a leading point- Meckel diverticulum, polyp, neurofibroma, hemangioma, malignancy |
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"black currant jelly" stool
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intuscusuption
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Child presents with sudden onset of severe paroxysmal colicky abdominal pain; straining, legs flexed. Exam: sausage-shaped mass in RUQ in cephalocaudal axis. Dx?
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intussusception
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A 13yr old girl complains of chronic, cramping abdominal pain and diarrhoea. She has noticed occasional blood in her stool. She has had fever off and on for 3mnths and has complained of persistent right wrist pain. CBC shows anaemia, and her sedimentation rate is elevated. Dx?
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Inflammatory Bowel Disease
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Which has more extraintestinal manifestations, UC or crohns?
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Crohns
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Skip lesions
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crohns
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Cobblestoning of mucosa
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crohns
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Ulcerative colitis involves what part of the GI tract.
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only the colon
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Dx of ulcerative colitis?
|
symptoms should be present for 3-4wks
Anaemia with severe of chronic disease Endoscopy with biopsy "Lead-pipe colon" seen on barium enema |
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"Lead-pipe colon"
|
ulcerative colon
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infliximab
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anti-TNF mAb
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Complications of UC
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increased risk of colon cancer
toxic megacolon with perforation |
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strictures, fissues and fistulas are more common in crohns or UC?
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crohns
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Toxic megacolon is associated with crohns or UC?
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UC
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Transmural gut involvement and presence of granulomas is associated with...
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crohns
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Hirschspring disease
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absence of a ganglion cells in bowel wall beginning at internal anal sphincter and extending variably proximally
|
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Define vesicoureteral reflux (VUR)
|
abnormal backflow of urine from bladder to kidney
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What is most common anatomical defect causing vesiculourethral reflux?
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submucosal tunnel between mucosa and detrusor muscle is short or absent
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What is the most cause of a palpable abdominal mass in a newborn?
|
hydronephrosis or polycystic kidney disease
|
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what is most common cause of hydronephrosis
|
posterior urethral valves
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What is the classic triad of post-strep GN
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edema, HTN, haematura
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|
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Alport syndrome
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collagen IV defect, X-linked; sensioneural hearing loss, renal problems, ocular lesion, macrothrombocytopenia
|
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IgA nephropathy (Berger disease)
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gross haematuria in association with upper respiratory infection or gastro. Milk porteinuria, mild-moderate hyptertension, Normal C3
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A 3 yr old child presents with Hx of bloody diarrhea and decreased urination. Symptoms began 5 days ago after family ate a fast food restaurant. At this time, pt developed fever, diarrhoea, vomting, abdominal pain. Dx?
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haemolytic uraemic syndrome
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Triad of haemolytic uremic syndrome
|
microangiopathic haemolytic anaemia, thrombocytopenia, uremia
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Etiology of HUS
|
shiga-toxin producing E.coli, Shigella, Salmonella, Campylobacter
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Pathophysiology of HUS
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subendothelial and mesangial deposits of granular, amorphous material- vascular occlusion, glomerular sclerosis, cortical necrosis, mechanical damage to rbc as they pass through the vessels. Intrarenal platelet adhesion and damage
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Presentation of HUS
|
most common <4yrs, bloody diarrhea, 5-10days after infection, sudden pallor, irritability, weakness, oliguria occur; milk renal insufficiency to acute renal failure (ARF)
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Describe blood film findings in HUS?
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helmet cells, burr cells, fragmented cells, moderate reticulocytosis, platelets usually 20,000-100,000/mm2
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Features of steroid-sensitive minimal change disease
|
proteinuria, hypoalbuminemia, edema, hyperlipidaemia
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an abnormal dilatation of pampiniform plexus is called a...
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variocele
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Are varioceles more common on left right?
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left
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A 16 yr old boy presents with a painless, paratesticular mass with a "bag of worms" character. It can be decompressed when supine. Dx?
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variocele (uncommon <10yrs old, most on left, most common surgically treatable cause of subfertility in men)
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Clinical Presentation of acquired hypopituitarism
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amenorrhea, no progression of sexual matruation, loss of weight, cold sensitivity, mentor stupor, decreased growth, diabetes insipidus, hypoglycemia, skeletal maturation delayed (BA 75% of CA)
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Causes of Tall stature
|
familial (most common)
fetal overgrowth: maternal DM, beckwith-wiedermann, sotos syndrome postant: excess GH, precocious puberty, Marfan syndrome, hyperthyroidism, XXY, XYY, fragile X |
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Precocious puberty
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sexual development girls <8yrs; boys <9yrs
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A 2mnth old patient has inadequate weight gain. His mother states he is constipated. On exam, he has decreased muscle tone, a large fontanel, a large tongue and an umbilical hernia. Dx?
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hypothyroidism
"cretinism" prolonged jaundice, large tongue, umbilical hernia, edema, mental retardation, widened anterior and posterior fontanel |
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Causes of congenital hypothyroidism
|
thyroid dysgenesis, transplantal passage of maternal thyrotropin, radioiodine exposure, fetal exposure to excessive iodine, iodine deficiency (endemic goiter)
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Causes of acquired hypothyroidism
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hashimoto (most common)
increased risk with Down, Turner, Klinefelter typically presents in adolescence |
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Presentation of acquired hypothyroidism
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first sign usually deceleration of growth
myxedema, constipation, cold intolerance, decreased energy, increased sleep, delayed osseous maturation, delayed puberty, head ache, visual problem. Diffusely increased, firm, nontender thryoid (but may be atrophic so can be non-goitrous) |
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A 12yo girl has 6mnth Hx hyperactivity and declining school performance. Appetite is increased; no weight gain. Physical examination reveals slight tremor of fingers, mild exopthalmos and a neck mass Dx?
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hyperthyroidism
(most common: Graves) peak age 11-15yrs, more girls than boys, often with family Hx |
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Pathology of exopthalmos in graves disease
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Infiltration of retro-orbital tissue with lymphocytes and plasma cells
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Signs of hyperthryoidism
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emotional lability, motor hyperactivity, tremor, increased appetite with weight loss, skin flushing, muscle weakness, tachycardia, palpitations, arrhythmias, hypertension
(thyroid storm) increased T4, T3, free T4 |
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Treatment of hashimotos thyroiditis
|
propylthiouracil (PTU) or methimazole
beta blockers for acute thyroid storm radioablation surgery, then thyroxine replacement |
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Describe an absence seizure
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brief 5-10s episode of staring, LOC.
May be eye fluttering. No postictal state Pt unaware of seizure |
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List 5 drugs currently used to treat seizure disorders in children
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phentoin, carbamazepine, valproic acid, levetiracetam, phenobarbital
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Describe the arnold-chiari malformation
|
elongation and downward displacement of the medulla and cerebellum into the spinal canal. Results in obstruction of IV ventricle, causing obstructive hydrocephalus and poss brainstem compression.
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Define cerebral palsy
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a non-progressive movement and posture disorder as a result of brain injury or malformation that occurs early in development. It is not an etiologic Dx but a clinical syndrome. A manifestation of static encephalopathy that refers only to MOTOR disability. INcidence 2:1000
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What are the 3 classifications of Cerebral palsy and their characteristics
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1. spastic: diplegic, hemiplegic etc
2. extrapyramidal: hypotonic, choreoathetoid,dystonic 3. mixed |
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When do most cases of intraventricular haemorrhage occur?
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between birth - 3 days of life
(RF: prematurity, RDS, hypoxia, hypotension, reperfusion of ischemic tissue, pneumothorax) |
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What is guillain-barre syndrome
|
an acute demyelination of peripheral nerves. It is an autoimmune syndrome and often follows a trivial viral infection
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signs and symptoms of guillian-barre syndrome?
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- extremity weakness, progressive, begins distally, extends proximally
- painful sesnory complaints - areflexia - autonomic involvement (e.g. hypotension, arrhythmias) |
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Symptoms of myasthenia gravis
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rapid fatigable weakness
double vision upper airway weakness (SOB) |
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What are EMG findings in myasthenia gravis?
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rapid loss of activity after repetitive stimulation of the same muscles
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Treatment of myasthenia gravis
|
ACh inhibitors (pyridostigmine)
immunosuppressive drugs (prednisolone) thymectomy |
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List 4 neural tube defects
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anencephaly
encephalocele meningocele myelomeningocele |
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Is the spinal cord usually involved in a meningocele?
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no, defect usually limited to vetebral arch and protrusion of meninges
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is the spinal cord involved in a myelomeningocele?
|
yes, defect involves vertebral arches and spinal cord
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What is spina bifida occulta
|
interrupted vetebral column in the posterior midline (usually lower lumbar and sacral level) and intact skin. Tethering of the spinal cord may be present.
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List 5 conditions that may be associated with spina bifida occulta
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syringomyelia, distematomyelia, tethered cord, dermoid cyst, dermal sinus tract
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What is macrocephaly?
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large head size (>95%)
|
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what is hydrocephalus?
|
increased CSF within the cranium
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What is duchenne muscular dystrophy
|
An x-linked recessive disorder due to mutation in dystrophin gene (short arm of x chromosome) characterised by progressive muscle weakness, pseudohypertrophy of calf, elevation of CK.
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What is spinal muscular atrophy? Describe features of type I
|
disease of anterior horn cells, frequently progressive. Most are inherited AR traits. Type 1 is early onset (<6mnths), poor prognosis (life expectancy 3yrs)
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What is Reye syndrome
|
a mitochondrial metabolic encephalopathy, frequently associated with liver dysfunction and fatty changes in the liver. Rash, vomiting, liver damage. Cause unknown, associated with aspirin consumption by children with viral illness.
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Dx of Reye syndrome
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1. elevated hepatocellular enzymes in serum
2. hypoammonemia 3. exclusion of other Dx |
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Lab findings in hypoparathyroid?
|
decreased serum calcium (5-7 mg/dL)
increased serum phosphorus (7-12mg/dL) normal or low alkaline phosphate low 1,2[OH]2D3, normal magnesium, low parathyroid hormone, ECG (prolongation of QT) |
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A 1mnth infant is seen with vomiting and severe dehydration. Physical examination reveals ambiguous genitalia; laboratory test show hyponatremia
|
Congenital adrenal hyperplasia
21-hydroxylase deficiency (most common) AR, salt losing (hyponatraemia), precursor steroid (17-OH progesterone) accumulate, decreased cortisol, increased ACTH, shunting to androgen results in masculinisation |
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|
Causes of Cushing syndrome
|
iatrogenic- prednisolone etc.
adrenocortical tumor pituitary adenoma producing ACTH (Cushing disease) |
|
|
Signs of cushing disease
|
moon facies, truncal obesity, impaired growth, striae, delayed puberty and amenorrhea, hyperglycemia, HTN, masculinization, osteoporosis with pathologic fractures
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An 8 yr old boy presents with 2/7Hx of vomiting and abdo pain. Mother states he has recently lost weight and has had a number of episodes of enuresis at night and more rarely during the day. On exam, his respirations are rapid and deep. Dx? What lab findings would you expect?
|
Diabetes mellitus (Type I)
hyperglycemia, metabolic acidosis (accelerated lipolysis + impaired lipid synthesis - increased free fatty acids - keton bodies - metabolic acidosis - Kussmaul respiration |
|
|
Describe the mechanism linking oliguria and DM?
|
osmotic diuresis; when renal threshold for glucose reabsorption is reached (180mg/dL) then glycosuria
|
|
|
Signs of diabetic ketoacidosis
|
hyperglycaemia, ketonuria, increased anion gap, decreased HCO3, decreased pH, increased serum osmolality
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Clinical features of type 2 DM in children
|
obesity, excessive weight gain, fatigue, incidental glycosuria (polydipsia and polyuria uncommon), acanthosis nigrans
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|
Age specific causes of child with a limp
|
<3 years- congenital hip displasia
3-6 Transient synositis 4-12yrs- Perthes disease >12 slipped capital femoral epiphysis |
|
|
What is best test for hip displasia?
|
ultrasound
After 4mnths: frog lateral xray |
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|
A 5 yo boy has developed progressive limping. At first painless, it now hurts to run and walk. Pain is in anterior thigh, relieved by rest. No known trauma. Dx?
|
Perthes disease (avascular necrosis of the capital femoral epiphysis in immature growing child)
more common males, 10% bilateral, sometimes after trauma |
|
|
Clinical presentaiton of slipped capital femoral epiphysis
|
obese adolescent; sudden-onset extreme pain; cannot stand or walk; 20% complain of knee pain, decreased hip rotation on examination
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|
What is transient synovitis?
|
viral; most 7-14 days after non-specific upper resp infection; most 3-8yrs of age. Acute pain with limp and mild restriction of movement, pain in groin, anterior thigh and knee.
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A newborn is noted to have a foot that is stiff, slightly smaller, medially rotated at heel. Heel can't go flat on exam surface. Dx?
|
Talipes equinovarus (clubfoot)
|
|
|
Mx of clubfoot
|
complrete correction by 3mnths (serial casting, splints, orthoses, corrective shoes) if not then surgery
|
|
|
Baker cyst
|
typical in middle childhood, distension of brusa by synovial fluid behind knee, US for aspiration. Sx if symptoms or enlargement >10yrs
|
|
|
Osgood-Schlatter disease
|
traction apophysitis of tibial tubuercle (overuse injury)
Active adolescent, swelling, tenderness, increased prominence of tubercle. Mx: rest, restriction of activities, knee immobilization, isometric exercises |
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|
A 12 year old girl is seen for routine physical examination. She voices no complaints. Examination is remarkable for asymmetry of the posterior chest wall on bending forward. One shoulder appears higher than the other when she stands up. Dx?
|
Scolioisis
Adolescents >11, females more common Dx Adams test, x-ray Mx brace, surgery (permanent internal fixation rods) |
|
|
Postive adams test. Dx?
|
scoliosis
|
|
|
Nursemaid elbow
|
radial head subluxation caused by longitudinal traction
Hx of sudden traction or pulling arm. |
|
|
A patient presents with 12/24 of fever, tibial bone pain and limp. Pt has infected laceration in the skin over the area. What are the most likely xray findings?
|
X-rays for patients with osteomyelitis are intially normal. Changes are not seen until 10-14 days. MRI more sensitive.
|
|
|
Classic triad of osteogenesis imperfecta?
|
fragile bones, blue sclera, early deafness (AD; structural or quantitative defects in type I collagen)
|
|
|
What is the most common genetic cause of osteoporosis?
|
osteogenesis imperfecta (AD; structural or quantitative defects in type I collagen)
|
|
|
Codman's triangle
|
osteosarcoma (caused by periosteal bone formation at the diaphysis)
|
|
|
sclerotic destruction of bone with "sunburst" appearance
|
osteosarcoma
|
|
|
lytic bone lesion with laminar periosteal elevation resembling "onion skin"
|
Ewing sarcoma
|
|
|
7 yo girl presents with 3/12 intermittent pain and swelling of left wrist and right knee. Pain worse in mornings, improves during day. She has been previously well. Exam shows swelling and effusion of right knee with decreased range of motion.Dx?
|
Juvenile rheumatoid arthritis
Age of onset <16 yrs Arthritis in one or more jionts Duration >6wks Exclusion of other causes |
|
|
JIA classification of <5 joints
|
pauciarticular or oligoarticular (usually knee, ankle. Never hip)
|
|
|
Signs of systemic JIA
|
arthritis, hepatosplenomegaly, lymphadenopathy, serositis, iridocyclitis
Cyclic temperature spikes >2wks Salmon-coloured evansecent rash (linear or circular) on trunk and proximal extremities |
|
|
Clinical presentation of SLE
|
>8yrs, females, fever, fatigue, arthralgia, arthritis, rash (malar and discoid), serositis, oral ulcers, ANA-positive, photosensitivity, livedo reticularis, Raynaud phenomenon
Renal: glomerulonephritis, nephrotic syndrome, hypertension, renal failure |
|
|
cardiovascular complications of SLE?
|
pericarditis; Libman-Sacks endocarditis, cardiomegaly, heart failure
|
|
|
Is anaemia in the context of SLE likely to be coombs positive or negative
|
coombs positive hemolytic anaemia
(or anaemiac of chronic disease) |
|
|
A patient with SLE is found to have a pericardial friction rub. What is the underlying pathology?
|
serositis
|
|
|
Dx of kawasaki disease
|
Fever for >5 days, plus 4 of the following 5
- Bilateral bulbar conjunctivits - Intraoral erythema - Erythema and swelling of hands and feet; desquamation of finger tips 1-3 wks after onset -Rash - Cervical lymphadenitis, usually asymmetric >1.5cm |
|
|
FBC in kawasaki disease?
|
increased ESK, CRP
increaesd platelets WBC normal to increased |
|
|
5 yo boy presents with abdominal pain. He has rencently recovered from a viral URTI. He has maculopapular lesions on the legs and buttocks. FBC, coagulation studies and electrolytes are normal. Microscopic hematuria. Dx?
|
Henoch-Schonlein Purpura (IgA mediated vasculitis of small vessels (IgA and C3 in skin, renal glomeruli, GIT)
|
|
|
IgA mediated vasculitis of small vessles
|
Henoch-Schonlein Purpura (HSP)
|
|
|
Clinical features of henoch-Schonlein purpura
|
usually follows URTI; 2-8yrs, usually in winter, more males than females
Low grade fever, fatigue Hallmark: pink, maculopapulat rash below waist; progresses to petechiae and purpura Abdo pain, blood in stools, arthritis, glomerulonephritis, hepatosplenomegaly, lymphadenopathy |
|
|
Lab findings in HSP?
|
increased platelets, WBCs, ESR
Anaemia Increased IgA, IgM May have anticardiolipin or antiphospholipid AB |
|
|
Urinae analysis in HSP?
|
rbcs, wbcs, casts, albumin (glomerulonephritis, haemolysis)
|
|
|
Renal biopsy shows IgA mesangial deposition and occassionall IgM, C3 and fibrin in 8 year old boy with vomiting and maculopapular rash.
|
HSP
|
|
|
Mx of HSP
|
symptomatic/supportive
Corticosteroids for intestinal complications |
|
|
Mechanism of Physiological anemia of infancy
|
intrauterine hypoxia stimulates EPO, high Hb at birth suppresses EPO leading to progressive drop in Hb over first 2-3mnths.
Exaggerated in preterms |
|
|
Infants with decreased dietary iron typically present with anaemia at what age?
|
9-24mnths (pallor, irritability, lethargy, tachycardia, systolic murmurs, long-term neurodevelopmental effects)
|
|
|
Lab findings in iron deficiency anaemia
|
decrease in bone marrow hemosiderine
decrease in serum ferritin decrease in serum iron and transferrin saturation (increased total iron binding capacity) microcytosis, hypochromia, poikilocytosis, decreased MCV Bone marrow: no stainable iron |
|
|
Blackfan-Diamond anaemia
|
increased rbc apoptosis- profound anaemia by 2-6mnths
Congenital anomalies: short stature, craniofacial deformities, defects of upper extremities, triphalangeal thumbs. Macrocytosis, increased HbF, increased rbc adenosine deaminase, very low reticulocyte count, icnreased serum iron, marrow with signficant decreased in rbc precursors |
|
|
2 yo has aplastic anaemia, microcephaly, microphthalmia, absent radii and thumbs. Dx?
|
Fanconi anaemia (congenital pancytopenia)
Features: hyperpigmentation, cafe-au-lait sports, absent of hypoplastic thumbs, short stature, macrocytosis, icnreased HbF, decreased WBCs and platelets ALL CELL LINES DEPRESSED |
|
|
Complications of aplastic anaemia?
|
increased risk of leukemia and other cancer
bone marrow failure recurrent infection/immunodeficiency severe anaemia coagulopathy iron overload, transfusion-transmitted infection |
|
|
Lab findings in megaloblastic anaemia
|
variation in rbc size and shape
low reticulocytes nucleated rbc large hypersegmented neurtrophils increased LDH macrocytosis (MCV>100fl) |
|
|
hypersegmented neutrophils
|
>5 lobes in a peripheral smear
associated with megaloblastic anaemia |
|
|
Clinical features of vitamin B12 deficiency
|
weakness, fatigue, failure to thribe, irritability, pallor, glossitis, diarrhoea, vomiting, jaundice, neurologic symptoms
|
|
|
Dx of pernicious naemia?
|
Schilling test
anti-parietal cell Ab |
|
|
Pathophysiology of hereditary spherocytosis
|
AD; abnormal rbc dur to spectin deficiency- decreased deformability, early removal of cells by spleen
|
|
|
Clinical presentation of hereditary spherocytosis
|
anaemia, hyperbilirubinaemia
hypersplenism biliary gallstones susceptible to aplastic crisis (parvoirus B12) |
|
|
Lab findings in hereditary spherocytosis
|
increased reticulocytes, increased bilirubin, low Hb, normal MCV, increased mean cell Hb concentration, spherocytes on smear
Positive osmotic fragility test |
|
|
G6PD deficiency
|
X-linked (a number of abnormal alleles)
within 24-48hrs after ingestion of an oxidant (acetylsalicylic acid, sulfa drugs, antimalarials, fava beans) or infection- rapid drop in Hb, haemoglobinuria, jaundice |
|
|
Heinz bodies
|
G6PD deficiency
|
|
|
A 6mnths old aftrican refugee presents with swollen hands and swollen feet.
|
Acute dactylitis (hand-foot syndrome) associated with sickle cell anaemia (ischemic necrosis of small bones)
|
|
|
Smear shows target cells, poikilocytes, hypochromasia, Howell-Jolly bodies, sickle RBCS Dx?
|
sickle cell disease
|
|
|
A 9 yo girl has a greenish-brown complexion, maxillary hyperplasia, splenomegaly, gallstones. Low Hb, normal MCV. Dx? Pathology?
|
Beta-Thallassemia Major
(excess alpha globin chains, alpha tetramers form, increase in HbF) |
|
|
Classic presentation of Beta thalassemia major
|
2nd month of life; progressive anaemia, hypersplenism, cardiac decompensation. Expanded medullary space with increased expansion of face and skull; extramedullary hematopoiesis, hepatosplenomegaly
|
|
|
What clotting components are assessed by bleeding time?
|
platelet function and interaction with vessel walls
|
|
|
What clotting compenets are assess by aPTT?
|
intrinsic pathway: form initiation of clotting at level of XII through the final clot (prolonged with factor VII, IX, XI, XII deficiency)
|
|
|
prolonged aPTT
|
VII, IX, XI, XII deficiency
|
|
|
What clotting factors are tested by PT?
|
extrinsic pathway; after activation of clotting by thromboplastin in the presence of calcium; II, VII, IX, X
|
|
|
prolonged PT
|
Deficiency of VII, XIII or anticoagulants
warfarin |
|
|
Severe haemophilia A is classified as
|
Factor VIII<1% of normal
moderate 1-5% milk>5% |
|
|
Describe PT, aPTT, bleeding time in haemphilia A
|
PT: normal
aPPT: prolonged bleeding time: normal mixing studies: correction |
|
|
Describe PT, aPTT, bleeding time in in vWD
|
PT: normal
aPTT: normal or prolonged Bleeding time: prolonged |
|
|
Describe PT, aPTT, bleeding time in Haemophilia B
|
PT: normal
aPTT: prolonged bleeding time: normal mixing studies: correction |
|
|
What is the most common hereditary bleeding disorder?
|
vWD
autosomal dominant (more females affected) |
|
|
Clinical presentation of vWBD
|
AD (family hx)
mucocutaneous bleeding (excessive bruising, epistaxis, menorrhagia, postoperative bleeding) increased bleeding time and aPTT |
|
|
Haemorhagic disease of new born is caused by...
|
vitamin K deficiency
|
|
|
Vitamin K deficiency is asociated with decrease in which clotting factors?
|
II, VII, IX, X and protein C and S
|
|
|
Which clotting factors are produced by liver?
|
all except for VIII (endothelial cells; circulates bound to vWF)
|
|
|
4 yo presents with petechiae, purpura and excessive bleeding after falling from his bicycle. There is no family Hx of bleeding disorders and he has been previously well (developmentally normal) Dx?
|
Immune Thrombocytopenic Purpura (ITP) Autoantibodies against platelet surface
Typically presents 1-4 wks after non specific viral infection Most 1-4 yrs of age, most resolve within 4 mnths, 10-20% develop chronic ITP |
|
|
Lab findings in idiopathic thrombocytopenia purpura
|
platelets <20,000
platelet size normal to increased other cell lines normal |
|
|
What is the role of blood transfusion in ITP?
|
Contraindicated unless life-threatening bleeding (platelet antibodies with bind to transfused platelets as well)
IVIg |
|
|
What is the Mx for ITP
|
IV Ig for 1-2 days. If inadequate response, prednisolone
|
|
|
What is the most common childhood cancer?
|
ALL
|
|
|
5 yo has a limp, lethargy and low grade fever. On exam he has hepatosplenomegaly, petechiae and pallor. Dx?
|
Acute Lymphoblastic Leukaemia
(Bone pain + bone marrow failure) |
|
|
What is the best test for diagnosis of ALL?
|
bone marrow aspirate showing abnormal lymphblasts
|
|
|
WHat is tumor lysis syndrome?
|
result of chemotherapy and rapid tumor cell lysis: hyperuricemia, hyperkalaemia, hypophosphatemia, hypocalcemia (tetany, arrhythmias, renal calcinosis)
|
|
|
16yo boy presents with weight loss, fever, night sweats and a nontender cervical lymph node that is 4-5cm. Dx?
|
hodgkin lymphoma
(most in 15-19yo; Ebstein-Barr virus may play a role Reed-sternberg cells- large with multiple or multilobulated nulcei) |
|
|
Reed sternberg cells
|
hodgkin lymphoma
|
|
|
Chemotherapy agents in ABVD regime
|
Adriamycin, bleomycin, vinblastine, dacarbazine
|
|
|
6 yo presents with persistent non-productive cough, wheeze not improved by an inhaled b-agonist. On examination is a low grade fever, and growth chart reveals poor weight gain. CXR reveals mediastinal mass. Most likely Dx?
|
Non-hodgkins lymphoma
|
|
|
At what age are brain tumors most common in children?
|
<7yrs
most are infratentorial |
|
|
10 year old child presents with first seizure. Pt has 1/12 hx of severe headache and progressively worsening wide-based gait. Most likely Dx?
|
Space occupying lesion, infratentorial
Benign astrocytoma most common. Low grade, rarely invasive, cerebellum is classic site |
|
|
6 yo presents with headache, persistent emesis for past week that is not associated with fever or abdominal pain.
|
Medulloblastoma (embyronal tumor)
mostly males ages 5-7 yrs, most midline cerebellar vermis, solid homogeneous mass in posterior fossa (may cause 4th ventricle obstrction and hydocephalus |
|
|
Ependymal tumors
|
occur in ependymal lining of ventricles; most in posterior fossa, 10% spread
|
|
|
A 14 yo girl has short stature and bitemporal visual field defects. Head CT shows calcification at sella turcica. Most likley Dx?
|
craniopharyngioma (suprasellar, minimal invasivess, major morbidity results from panhypituitarism, growth failure, visual loss)
|
|
|
What is the most common tumor of the optic nerve?
|
optic nerve glioma (benign, slowly progressive, associated with NF1, unilateral visual loss, proptosis, eye deviation)
|
|
|
4 yo boy with neurofibromatosis presents with decreased visual acuity. On examination, pt has proptosis and papilledema. Dx?
|
optic nerve glioma
|
|
|
3 year old child has abdominal mass and HTN. Otherwise well. Dx?
|
Wilms tumor (nephroblastoma)
usually 2-5yrs, bilateral 7% |
|
|
2 yo child has bluish skin nodules, periorbital proptosis, periorbital ecchymosis that have developed over last few days. Exam reveals a hard smooth abdominal mass. Dx?
|
neuroblastoma (8% of childhood malignancies)
derived from neural crest cells |
|
|
a catecholamine-secreting tumor from chromaffin cells is called a...
|
pheochromocytoma
|
|
|
what is a pheochromocytoma
|
catecholamine-secreting tumor from chromaffin cells
most common site: adrenal medulla more on right side; >20% bilateral Associated with NF1, MEN-2a/b, tuberous sclerosis, Sturge-Weber, Ataxia-telangietasia |
|
|
Clinical presentation of pheochromocytoma
|
episodic HTN, palpitations, diaphoresis, headahce, abdominal pain, dizziness, pallor, vomiting, encaphalopathy
|
|
|
4yo girl presents with "grapes" growing out of her vaing
|
rhabdomyosarcoma (embryonal, botryoid type)
|
|
|
alpha-feto protein is a marker of what congenital defect?
|
neural tube defects
|
|
|
What is meant by the term "tethered cord"
|
ropelike filum terminale persists and anchors the conus below L2.
Abnormal tension: asymmetric lower extremity growth, deformitis, bladder dysfunction, progressive scoliosis, diffuse pain, motor delay. Most assocaited with midline skin lesion |
|
|
A neonate has a fluctuant midline mass covered with skin over his sacrum. Dx and mangement?
|
meningogele.
MRI to determine neural involvement, CT head ?hydrocephalus. Immediate surgery if there is only a thin cover or leak of CSF |
|
|
What is the most likely clinical outcome of a (1) low sacral and (2) myelomeningocele
|
(1) bowel and bladder incontinence and perineal anesthesia without motor impairment
(2) flaccid paralysis bleow level of lesion, hyporeflexia, no response to touch and pain, urinary dribbling, relaxed anal spincter |
|
|
Most common causes of obstructive hydrocephalus
|
Chiari II malformation associated with spina bifida
Cerebral aqueduct stenosis or gliosis Lesions near the IV ventricle |
|
|
Pneumoccoal meningitis may cause what type of hydrocephalus
|
non-obstructive
|
|
|
Clinical presentation of hydrocephalus
|
increased head circumference, bulging anterior fontanel, distended scalp veins, setting sun sign, spasticity, clonus
|
|
|
Chiari type I malformation
|
displacement of cerebral tonsils into cervical canal from obstruction of caudal IV ventricle during development. No hydrocephalus. Recurrent headache and neck pain, urinary frequency, progressive spasticity.
|
|
|
Is chiari malformation associated with hydrocephalus
|
Type I - NO!
Type II- yes, progressive |
|
|
cystic expansion of IV ventricle + agenesis of posterior cerebellar vermus
|
Dandy-Walker malformation
|
|
|
Define epilepsy
|
2 or more unprovoked seizures occurring more than 24hrs apart.
|
|
|
Benign centrotemporal (rolandic) epilespy
|
repetitive spikes from Rolandic gyri with a normal background. No neuropathic lesion, excellent prognosis. Occurs at 2-14 years of age; peak 9-10 yrs
Postitive Fhx, partial seizures, most often of the face. No treated unless frequent, carbamazepine |
|
|
Absence seizures
|
sudden cessation of motor activity or speech with blank stare and flickering eyes; more in girls; uncommon <5yrs age. No aura, 10-15s, no postictal period, sometimes automatism.
|
|
|
Myoclonic seizures
|
repetitive, brief, symmetric muscle contractions and loss of body tone with falling forward.
|
|
|
Infantil spasms
|
symmetric contracts of neck, trunk and extremities, begin typically at 4-8mnths, EEG shows hypsarrhythmia (asynchronous, chaotic bilateral spike-and-wave patter)
Treated with ACTH or 2nd line prednisone |
|
|
NF-1 gene is found on chromosome...
|
17 (17 letters in neurofibromatosis)
|
|
|
Dx critiera of Neurofibromatosis
|
AD, high de novo mutation rate. Present from birth but complications may be delayed
DX must have at least 2 of the followin - 5 or more cafe-au-lait spots >5mm prepubertal or >6 >15mm postpubertal -axillary/inguinal freckline >2 iris Lisch nodules (slit lamp) >2 neurofibromas or one plexiform neurofibroma - Osseous lesions: kyphoscoliosis, splenoid dysplasia - optic gliomas |
|
|
Complications of NF1
|
low grade gliomas, hamartomas
malignant neoplasms (astrocytomas, neurofibrosarcoma) cerebral vessel stenosis, aneurysm complex partial or generalised seizures cognitive defects/ psychiatric disturbance renovascular HTN or pheochromocytoma increased incidence of leukaemia, rhabdomyosarcoma, Wilms tumor |
|
|
Presentation of Neurofibromatosis type 2
|
bilateral acoustic neuromas ,fearing loss, facial weakness, headache, unsteady gait
|
|
|
Dx of neurofibromatosis type 2
|
one of the following
- bilateral acoustic neuromas - frist degree relative with NF2 + unilateral 8th nerve mass or any 2 of the following: neurofibroma, glioma, meningioma, schwannoma |
|
|
Tuberous slerosis
|
AD; 50% with new mutations
CNS tubers found in convolutions of cerebral hemispheres; they undergo calcification and project into ventricular cavity- hydrocephalus |
|
|
A 1mo presents with infantile spasms and a hypsarrhythmic EEG pattern. On examination, he has ash-leaf macules on his skin. Dx?
|
tuberous sclerosis
|
|
|
A newborn has a facial nevus. He is otherwise normal with uncomplicated pregnancy and delivery. 2 month later he has unprovoked focal tonic-clonic seizure (contralateral to nevus) and CT brain reveals intracranial calcifications. Dx?
|
Sturge-Weber syndrome
facial nevus= port wine stain |
|
|
Sterge-Weber sndrome
|
facial nevus (port wine stain), seizures (focal tonic clonic contralateral to nevus), hemiparesis, intracranial calcification, mental retardation, glaucoma in ipsilateral eye.
|
|
|
Wilson disease
|
inborn error of copper metabolism; AR;
liver with or without CNS disease Kayser-Fleischer rings- pathognomonic best screen: decreased serum ceruloplasmin |
|
|
Infant has failure to thrive. He is lying in frog-leg position, has subdiaphragmatic retractions, hypotonia and absent tendon reflexes.
|
Spinal muscle atrophy type 1
(autosomal recessive) fasiculation of the tongue and fingers cognition not affected muscle biopsy shows perinatal dervation due to death of anterior hron cells |
|
|
Lesch-Hyhan disease
|
X-linked disorder of purine metabolism causing excess uric acit. Delayed motor development after a few months. Self-mutilation and dystonia, gouty arthritis. Choreoathetosis, spasticity, renal calculi
|
|
|
Hereditary motor-sensory neuropathies type I is also called
|
Marie-Charcot-Tooth disease
|
|
|
Describe Marie-Charcot-Tooth Disease
|
progressive disease of peripheral nerves; usually affects peroneal and tibial nerves first. Peroneal muscle atrophy;
AD. Assymptomatic until late childhood, then problems with gait, clumsy, fall easily, anterior muscle compartment becomes wasted, pas cavus, foot drop |
|
|
6 yr old presents with headache, vomiting ,neck stiffness and photophobia. Child appears ill, and has postive Kernig and Brudzincki signs. Dx?
|
bacterial meningitis (S. pneumoniae, N. meningitidis)
|
|
|
Kernig sign
|
bacterial menigitis
Flexing of the hip 90 degress and subsequent pain with leg extension |
|
|
Brudzinski sign
|
involuntary flexing of knees and hips after passive flexing of neck while supine. Bacterial meningitis.
|
|
|
Signs of occulomotor palsy
|
Eyes look down and out due to unopposed contraction of superior oblique (IV) and lateral rectus (VI). Diploplia
Ptosis (levator palpebrae superioris affected) Mydriasis (pupil dilation- sphincter pupillar defect) |
|
|
Signs of abduscens (VI) palsy
|
VI invervates lateral rectus which functions to abduct the eye. It has longest subarachnoid course of all CN.
Palsy results in diplopia, esotropia (cross-eyes) |
|
|
Clinical menignitis with temporal lobe involvement (e.g. focal seizures, localised findings on MRI) should increase suspicion of
|
Herpes simplex virus; should be treated with acyclovir
|
|
|
A 10mo presents with paroxysmal cough, facial petchiae and conjunctival haemorrhage. She is delayed in her vaccinations. Dx?
|
Bordetella pertussis (whooping cough)
Neither natural disease nor vacination provides complete or lifelong immunity; wanes after 3-5 years and immeasurable after 12 years. |
|
|
Describe 3 phases of whooping cough (Bordetella pertussis infection)
|
Cararrhal phase (2 wks) cold like symptoms
Paroxysmal phase (2-5wks) severe cough paroxysms, inspiratory "whoop" + facial petechiae Convalescent phase (2wks) gradual resolution of cough |
|
|
6 yo presents with swollen 3x5cm tender, erythematous, anterior cervical neck node. Denies Hx of fever, weight loss, chills, night sweats or sore throat. Patient's pets inlcude a kitten, turtle and goldfish. Dx?
|
Cat-scratch disease (Bartonella henselae)
|
|
|
What is the most common cause of lymphadenitis lasting >3wks?
|
bartonella henselae - gram negative bacilli (cat scratch disease)
|
|
|
Clinical presentation of cat sratch disease
|
1 or more 3-5mm red to white papules along the linear scratch + chronic regional lymphadenitis
Fever, malaise, headache, anorexia Atypical presentation: parinaud oculoglandular syndrome |
|
|
How does primary TB usually present in children?
|
often asymptomatic (healthy host will wall off the organism)
Infants more likely to have signs (low grade fever, mild cough, malaise) |
|
|
Triad of lyme disease (Borrelia burgdorferi)
|
rash
bell palsy/carditis arthritis |
|
|
6 yo presents with rash after camping with his family. On exam, the rash has a red raised border with central clearing. Dx?
|
Lyme disease (Borrelia burgdorferi - tick)
Bulls eye rash Lesions resolve in 1-2wks, secondary lesions may appear + constitutional symptoms + lymphadenopthy + uveitis, bells palsy, carditis, CNS findings) Late disease: arthritis weeks to months later |
|
|
Mx of lyme disease
|
Doxycycline 13-21 days (patients >8yrs)
Amoxicillin (patients<8yrs) |
|
|
A newborn has white plaques on his buccal mucosa that are difficult to scape off with a tongue depressor. When removed, a small amount of bleeding is noted by the nurse. The infant has just received a course of empiric abx for suspected GBS. Dx? Mx?
|
candida albicans infection (oral thrush)
treat with oral nystatin gargles, if refractory/recurrent, single dose fluconazole |
|
|
Infant has confluent papular erythematous plaques with satellite lesions of the perineum. Dx? Mx?
|
diaper dermatitis
satellite lesions suggests fungal cause- candida albicans most likely. Mx topical nystatin if significant inflammation add 1% hydrocortisone for 1-2days. |
|
|
Child presents with coryza, cough, conjunctivitis and fever. A morbilliform rash is seen over the body including the palms. Mother states the rash began cephalad and spread caudad. Tiny grayish white dots are seen on the buccal mucosa next to the 3rd molar. Dx? What are name of spots?
|
Measles (Rubeola; RNA paramyxovirus, very contagious)
Koplik spots |
|
|
Measles triad
|
cough, coryza, conjunctivitis
|
|
|
Complications of measles
|
otitis media (most common)
pneumonia encephalitis (most feared) |
|
|
5 yo girl presents with low-grade fever, a pinpoint rash, postoccipital and retroauricular lymphadenopathy and rose spots on the soft palate. Dx? What are name of spots?
|
Rubella (german measles)
rash similar to measles (begins on face and spreads to rest of body, lasts 3 days) Forscheimer sports Polyarthritis may occur in some pat. |
|
|
Rubella triad
|
1. maculopapular rash
2. posterior cervical lymphadenopathy 3. +/- polyarthritis |
|
|
Roseola triad
|
high fever PRECEEDING rash
rose-coloured papules on trunk occipital lymphadenopathy |
|
|
5yo is brought to ED because of fever of 38.9 + pruritic rash. Rash appears to be in various stages of papules, vesicles and crusts. It began on his trunk and spread to extremities. Most likely Dx?
|
Varicella-zoster
Stages: macules, papules, vesicles then pustules crops lesions can turn hemorrhagic |
|
|
Varicell triad
|
1. rash in various stages
2. crops 3. pruritis |
|
|
Complications of varicella?
|
scarring, pneumoniae, Guillian Barre syndrome, encephalitis, cerebellar ataxia, post-herpetic neuralgia, Ramsey hunt syndrome
congenital varicella |
|
|
What is ramsey hunt syndrome (type 2)
|
herpes zoster oticus
(reactivation of pre-exisiting herpes zoster virus in geniculate ganglion- acute facial nerve paralysis, pain in ear, taste loss in anterior 2/3, dry mouth and eyes, vescicular rash in ear canal, tongue and hard palate |
|
|
4yo has developed red cheeks, a lacy rash on her upper extremities and trunk. She has just started attending pre-school. Dx
|
Erythema infectiosum (Fifth's disease, slapped cheek, parvovirus B19)
|
|
|
Fifth's disease triad
|
1. "slapped cheeks"
2. aplastic crisis 3. fetal hydrops |
|
|
Clinical presentation of fifths disease (parvovirus B19)
|
mild systemic symptoms, arthritis, intensely red "slapped cheek" appearanec, lacy, reticular rash over trunk and extremities, sparing of palms and soles, rash may last up to 40 days.
|
|
|
EBV infectious mononucleosis triad
|
1. fatigue
2. pharyngitis 3. generalised lymphadenopathy |
|
|
22 yo college students presents with fever, fatigue, sore throat that have not improved fro the last 2 wks. Exam reveals generalised adenopathy most prominent in the anterior and posterior cervical nodes. Dx?
|
infectious mononucleosis (EBV)
transmitted by oral secretions ("kissing disease intermittent shedding for life Incubation period 30-50 days many cases clinically silent |
|
|
EBV is associated with what malicancies?
|
Burkitt lymphoma
Also: hodgkin lymphoma, leiomyosarcoma, nasopharyngeal carcinoma |
|
|
What complication may occur in EBV infection is treated with ampicillin or amoxicillin?
|
maculopapular immune-mediated vasculitic rash
|
|
|
A 15yo presents with maculopapular rash. 2 weeks earlier, she had presented with pharyngitis and lymphadenopathy for which she was given Abx. What is the Dx? And which Abx was she most likely given?
|
EBV treated with amoxicillin or ampicillin can result in immune mediated vasculitic rash
|
|
|
Complications of EBV infection
|
Splenic haemorrhage or rupture- very rare, mostly in second week + trauma. No contact sports or strenuous activity with splenomegaly
Swelling of tonsils and oropharyngeal lymphoid tissue (airway obstruction) Guillain Barre Aplastic anaemia Chronic fatigue? |
|
|
A 14 yo presents with 2 day Hx of high fever, headache, sore throat, myalgia, anorexia and non-productive cough. Symptoms began abruptly. Dx?
|
influenza
|
|
|
2yo presents with vesicular rash in his mouth and on his palms and soles. Examination reveals a rash on his buttock. Dx?
|
Hand-foot-mouth disease (usually Coxsackievirus)
|
|
|
Poliovirus
|
lives in GIT, can cause URI symptoms, asymmetric flaccid paralysis
|
|
|
Mother brings her 3 children to GP. They all have 3/52 Hx pruruitic rash beginning in webs of fingers and toes and spreading to wrists, albows and axilla. Itch is worse at night and after showering. Dx?
|
Scabies (Sarcoptes scabiei)
female burrows and releases toxic substances; intense pruritis at site of infection, esp at night. |
|
|
Mx of scabies
|
>2mnths of age permethrin 5% or lindane 1% on entire body from neck down. Infants <2mnhts 6% sulfur in petrolatum. Launder ALL linens and clothes in hot water to sterilize. Treat entire household.
|
|
|
Describe the stages of paracetamol toxicity
|
Stage 1 (<24hrs) nausea, vomiting, diaphoresis
Stage 2 (24-28hrs) clinical improvement, rising LFTs Stage 3 (72-96) peak abnormalities of LFTS, more GIT symptoms Stage 4 (4 days-weeks) resolution or <1% fulminent hepatic necrosis |
|
|
Mx of paracetamol overdose
|
n-acetylcystein (NAC)
best if started within 8hrs post-ingestion Use Rumack-Matthw nomogram to plot plasma level against hours post-ingestion |
|
|
Signs of acute amphetamine toxicity
|
diarrhea, palpitations, arrhythmias, syncope, convulsions, coma
|
|
|
Describe stages of iron overdose
|
Stage 1 (30-60mins) GIT symptoms
Stage 2 (6-12hrs) clinical improvement Stage 3 (24-48hrs) shock, hepatorenal failure, bleeding, metabolic acidosis Stage 4 (1-2mnths later) GIT scarring, obstruction, pyloric stenosis |
|
|
Mx of iron overdose
|
deferoxamine
>150mg/kg ingestion is considered toxic; treat if symptomatic, serum iron is >TIBC or serum iron >350mg/dL |
|
|
Intubation is indicated if GCS is...
|
less than 8
|
|
|
List signs of basilar skull fracture
|
battle sign, raccoon eyes, hemotypmanum, CSF rhinorrhea, otorrhea
|
|
|
Battle sign, raccoon eyes, hemotypmanum, CSF rhinorrhea, otorrhea are all signs of...
|
basilar skull fracture
|
|
|
Lens shaped hemorrhage on CT head is suggestive of
|
epidural hematoma
(LOC - lucid interval - LOC) |
|
|
Crescent shaped haemorrhage on CT head suggests...
|
subdural haematoma
|
|
|
Punctate hemorrhages on CT brain are suggestive of
|
cerebral contusion
|
|
|
Staphylococcal scalded skin syndrome
|
children <5, hematogenous spread
Consitutional symptoms, fever, skin tenderness, diffuse scarlatiniform erythema with inflamed conjunctivae, sterile flaccid blishers and erosions may develop Nikolsky sign: areas of epidermis separate in response to gentle shearing force, large areas peel away, appearance of denuded areas. |
|
|
Common warts are caused by...
|
Also called verruca vulgaris
HPV types 2 and 4; seen on hands, knees and elbows Plantar warts are caused by HPV1 Genital warts HPV 6, 11 |
|
|
Plantar warts are caused by
|
HPV types 2 and 4; seen on hands, knees and elbows
Plantar warts are caused by HPV1 Genital warts HPV 6, 11 |
|
|
Molluscum contagiosum are cused by
|
poxvirus (DNA virus) transmitted through direct contact with an infected person or fomites.
|
|
|
6yo boy presents with multiple discrete, pearly, skin-coloured, cone-shaped papules from 1-5mm with central umbilication. They are present in groups on the neck, axillae and trunk. Dx?
|
molluscum contagiosum
|
|
|
erythema multiforme
|
10-30yrs; classic lesion: doughnut shaped, target-like papules with an erythematous outer border, an inner pale ring and a duscly purple necrotic centre
Most common site: extensor surfaces of upper limbs Resolve in 2 wks. Associated with HSV infection |
|
|
17 yo girl presents with doughnut-shaped, target like papules on extensor surfaces of arms. It resolves over a 2 wk period. Dx?
|
Erythema multiforme
(HSV infection) |
|
|
Steven Johnson syndrome (erythema multiforme major)
|
erythematous macules that rapidly develop central necrosis- morbillifom rash. Form vesicles, bullae and areas of denudation on face, trunk and extremities.
Fluid loss, multiorgan involvemnt, secondary bacterial infection due to extensive necrosis of skin barrier Usually caused by drug-related AD |
|
|
Causes of steven-johnson syndrome?
|
sulfonamides
NSAIDs Anticonvulsants |
|
|
Early signs of meningococcal
|
leg main, cold extremities, abnormal skin colour
|
|
|
Toxicity in infants is assessed using what mneumonic
|
Alert, Breathing, Circulation, Dehydration
|
|
|
Is axillary temperature higher or lower than rectal?
|
usually 1 degree lower
|
|
|
What % of untreated Kawasaki disease develop coronary artery aneurysms
|
25%
|
|
|
What is the most common cause of child with LOC?
|
hypoglycaemia
|
|
|
what is the mechanism of grunting
|
expiration against closed glottis
|
|
|
Define apnoea
|
no respiratory effort for >20s
|
|
|
Why are the airways of infants more prone to obstruction
|
increased soft tissue; decreased cartilage
|
|
|
A slow heart rate in the context of increased BP suggests...
|
raised intracranial pressure
|
|
|
Where should capillary refill be measured in a neonate
|
centrally, over sternum. >2s is abnormal
|
|
|
What is normal fluid intake in a <9mnth child
|
120-140ml/hr
|
|
|
Urine output of ___ wet nappies in 24hrs is a concern
|
<4
|
|
|
What is the best Rx for severe bronchiolitis in a 7 year old
|
CPAP
(possibly bronchodilators) |
|
|
Are Abx effective in bronchiolitis?
|
NO
|
|
|
Are corticosteroids used in Mx of bronchiolitis?
|
NO
|
|
|
List indications of severe asthma
|
persistent tachypnea, pulse oximetry <93%, decreased cerebral function, pulsus paradoxus, hyperinflation of chest
|
|
|
Normal blood glucose in (a) kids (b) neonates
|
(a) 3.5-5.5mmol/L
(b) 2.9-7mmol/L |
|
|
18mo boy with bright, red, raised erythema over cheeks with nasal periorbital sparing. He has headache, irritability. He has just started childcare. Dx?
|
parvovirus B19
|
|
|
8mo boy has 2/7 Hx of high fever, malaise, cough, coryza, Koplitz spots on inside cheeks after which a blanching rash develops beginning at head. The child has just been weaned from breast milk. Dx? Incubation period?
|
Measles; 3Cs cough, coryza, conjunctivitis + blanching rash
Incubation period: 5-7 days until coryza, 14 days until rash. |
|
|
What is a Hydrocele
|
collection of fluid INSIDE the tunica vaginalis surrounding the testes
|
|
|
Clinical signs suggestive of dehydration
|
decreased LOC, capillary refill >2s, dry oral mucosa, sunken eyes, decreased skin turgor, absent tears, deep respirations, weak thready pulse, decreased urine output
|
|
|
Clinical signs of respiratory distress
|
tracheal tug, recession, poor air entry, wheeze, decreased ability to speak, grunting, increased RR, decreased oxygen saturation
|
|
|
Why shouldn't ice of ice water be used in the treatment of burns
|
vasoconstriction, local ischaemia, generalised hypothermia
|
|
|
Describe presentation of full thickness burns
|
white, charred, painless
|
|
|
What waist:heigh ratio is associated with increased cardiometabolic risk in adolescents?
|
>0.5
|
|
|
What % of school-aged kids were overweight or obese in 2010 in Australia
|
23%
|
|
|
What % of children Dx with type 2 diabetes are overweight or obese
|
>90%
|
|
|
CHW super 6 recommendations
|
1. eat breakfast
2. eat together at least 1 meal/day 3. be active for 60' outside/day 4. No more than 2 hrs screen time 5. drink water as main fluid 6. sleep? |
|
|
Acanthosis nigrans
|
thickened pigmented skin in flexures associated with insulin resistance and obesity; is more easily seen in pigmented skin
|
|
|
What % of infants in Australian have challenge proven IgE allergy
|
~10%; increasing
|
|
|
T/F IgE food allergy is more common in children with atopic dermatitis
|
T
|
|
|
T/F Children with asthma are at greater risk of more severe IgE allergic reactions
|
T
|
|
|
T/F symtpoms in IgE food allergies usually develop in the hours to days after ingestion
|
F usually immediate (minutes after ingestion)
|
|
|
More than 50% of children who have IgE mediated allergy to 1 food protein are allergic to another
|
T
|
|
|
List common food allergens in children
|
cow's milk, soy milk, egg, nuts
|
|
|
Mx of anaphylaxis
|
epinephrine IM 0.01mg/kg (1:1000)
|
|
|
What is most common trigger of non-IgE mediated food allergies
|
Cow or soy milk
|
|
|
An IgE mediated allergic response in an infant is most likely to occur...
|
upon 2nd exposure (may be 1st if exposure has occurred inadvertently)
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What % of IgE allergies present in first year of life?
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80%
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T/F skin prick tests have a good NPV in kids >2yrs
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T
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T/F the size of the skin prick reaction is a good indicator of severity of the allergic response in that child
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F
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T/F Skin prick tests have a good PPV in children >2yrs
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F
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Skin prick tests can be used for assessing delayed skin reaction T/F
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F
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T/F Many atopic children have positive skin test but no symptoms on exposure to allergens
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T
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What is RAST?
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Radioallergosorbent test. Performed by sticking allergens on solid phase of lab plate and adding patient serum, followed by anti-IgE marker
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What is the gold standard test for Dx of IgE-mediated food allergy
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Double blind placebo controlled food challenge
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Why should a child on beta-blockers never receive DBPCFC for food allergy?
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may interfere with treatment of anaphylaxis
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A child is most likely to grow out of an allergy to...
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egg, milk, soy, wheat
peanuts ~20% Rare: fish, shellfish, treenuts |
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List factors which increase risk of severe reactions in an allergic child
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older age, largerallergen dose, co-morbid asthma, nut or shellfish allergen, linear epitope
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What is the usually timing of a non-IgE mediated food allergy?
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delayed (2-24hrs)
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11mo boy presents with frequent vomiting (6/day), worsening since 7mo of age. MHx includes reflux + severe eczema since birth. Dx?
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eosinophilic esophagitis (atopic + increasing vomiting)
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What are the 2 brands of adrenaline autoinjectors available in Australia. What do they contain?
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EpiPen + Anapen
Should be given IM in aterolateral thigh 1:1000 adrenaline |
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What is FPIES
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Food protein induced protein intolerance syndrome. Clinical Dx. Non-IgE mediated hypersentivity. Profound vomiting, diarrhoea + dehydration developing 2-3 hrs after eating the accused food. Rice, soy, eggs, cow's milk are most common
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What is the most common food allergen implicated in FPIES
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rice
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What is most common rheumatological disease in childhood?
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Juvenile Idiopathic Arthritis
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Dx criteria for Juvenile Idiopathic Arthritis
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Symptoms present for >6wks
Onset before age 16yrs Arthritis in 1 or more joints |
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"Pinpoint bone tenderness" in setting of acute onset joint pain is cardinal sign of...
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osteomyelitis
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16 yo with sudden onset (over days) painful, swollen joints of hands and feet + bright facial rash. Dx? What organism would be found in joint aspirate?
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Parvovirus B19; no organism- immune mediated
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8yo boy developed arthritis 2wks after sore throat and fever. Dx?
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rheumatic fever
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Wegner's Granulomatous
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Affects small/medium sized vessels; 90% european descent. Chronic sinusitis, respiratory symptoms, cough. Very rare in childhood
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JIA epidemiology
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1:1000 children; more common in girls, HLA association, oligoarticular is most common (50-60%)
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Oligoarticular JIA
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affects 4 or less joints; usually of lower limbs/ankles
Rarely hips 80% ANA positive |
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Describe relationship between uveitis and ANA positive arthritis?
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Uveitis is more common in patients who are ANA positive. May be asymptomatic in early stages. Therefore screening recommended. Uveitis does not parallel arthritis severity
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Is RF+ polyarticular disease more likely to present with symmetric or assymmetric joint involvement?
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symmetric
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Jones criteria for rheumatic fever
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Required: evidence of antecedent streptococcal infection
e.g. Antistreptolysin, throat culture, recent scarlet fever Major: carditis, polyarthritis, previous rheumatic fever, chorea, erythema marginatum, subcutaneous nodules Minor: fever, arthralgia, CRP, ESR, leukocytosis, prolonged PR |
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Scarlet fever
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red cheeks, pale area around mouth. Sore throat. Strawberry tongue, Forchheimer spots on soft palate, Incubation period 1-4days, blanching, fine reticular rash starts 12-72hrs after fever (chest, armpits, behind ears, desquamation). Group A strept (strep pyogenes)
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Erythema marginatum
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doughnut shaped; dark margin, pale centre, starts lower trunk under arms.
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Presentation of slipped capital epiphysis
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obese adolescent boys; hip, knee, medial thigh pain, decreased ROM. Sudden or sub-acute onset. Caused by instability of proximal femoral growth plate
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Ankolysing spondilitis
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97% heritability, reflects prevalence of HLA-B27, HLA-B27 present in 90% of cases; 6.5% of people with HLA-B27 have AS.
Presents 2nd decade of life, males 2.5:1 Juvenile onset: more peripheral joint involvement, poorer prognosis. |
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Enthesitis
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inflammation of enthesitis- sites where tendons or ligaments insert into bone
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Growing pains
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bilateral, idiopathic, 3-10yrs, more common at night, no deficit in morning
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Ewing sarcoma occurs most commonly...
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in diaphyseal regions of long bone (in adolescents)
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X-ray findings in osteosarcoma
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sunburst, moth-eaten, speculated periosteum reaction cuff of new bone formation at margin
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WBC 5,000-50,00 in joint aspirate of inflammed joint is suggestive of?
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non-septic inflammatory arthritis
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c-ANCA
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Wegeners
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Anti-Ro/La
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Sjorgrens
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Anti-centromere
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CREST
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Anti-ds DNA
Anti-Smith |
SLE
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19 year old girl has bilateral, poorly-localised, intermittent shin pain occurring mainly at night with no functional deficit during the day. Dx?
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growing pains
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Henoch Schonlein Purpura
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most common vasculitis in children, recurrent in 1/3 of patients, peak incidence 4-19yrs, palpable, non-thrombocytopenia purpura in lower extremities, buttock
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Stills disease makes up what % of childhood arthritis
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10%
very rare in adulthood |
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Polyarticular arthritis involves how many joints?
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5 or more
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Which feature of Still's disease is most likely to become life threatening if left untreated?
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Serositis, pericarditis, tamponade
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Oligoarticular arthritis
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most common <5yrs, affects girls more than boys, large joints. Mostly ANA +, RF - (80%)
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3 complications of oligoarticular JIA
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knee flexure contracture, quadricep atropy, leg-length-discrepency
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What is the mainstay of treatment in oligoarticular JIA
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intra-articular bethamethasone
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JIA ANA+ requires screening for...
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uveitis
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8 year old girl with abdominal pain, bloody diarrhoea, ankle swelling and rash. Dx?
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HSP
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Dx criteria for HSP (at least 2/4)
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palpable purpura; age <20 at onset, bowel angina, granulocytes in walls of arterioles and venules on biopsy
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Acute morbidity in HSP most commonly caused by...
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GI complications e.g. bleeding, intuscuception
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Presence of Anti-phospholipid Abx increases risk of...
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thrombus
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7 yo girl has red eyes, progressive difficulty keeping up with her peers. Tip toe gait, flexure contracture of ankle joints, heliotrope rash, subcutaneous calcinosis. Dx?
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Dermatomyositis
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Are stress fractures commonly found in children?
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no, not until adolescence
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Describe differences between children and adult bones.
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Children's bones are more porous, have higher cartilage content, thicker periosteum. They tend to fracture not sprain and are more likely to have soft tissue damage.
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List features of a physis
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radioluscent, cartilaginous, provides both longitudinal and circumferential growth, is weaker than adjacent ligaments
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What is the most common Salter Harris fracture?
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II
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What Salter Harris fracture has the worse prognosis
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V
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Which test assess the ulnar nerve
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finger abduction
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Features of compartment syndrome
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increasing pain since injury, pain on passive extension, tightness in muscle compartments, impaired capillary refil, absence of pulses
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List factors which impair potential of remodelling
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<2 years growth remaining, fracture is further from metastasis, intra-articular fracture, if deformity is in different plane compared with nearest joint
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Generally, what is the maximum degree of deformity acceptable in a small child (3yo)?
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very young: max 30 degrees
older kids: max 10 degrees |
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Progressive deformity may be caused by
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non-union, permanent damage to growth plate, malnutrition, incorrect reduction
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Non-union is...
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uncommon, increased risk in displaced intra-articular fractures, fractures with soft tissue interposition
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Synovial fluid may inhibit callous formation (T/F)
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T
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How long will a femoral fracture take to heal in (a) neonate, (b) adolescence (c) adults
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3-4wks
10-14wks 14-24wks |
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What is the most common cause of pathological fracture in children
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benign cyst
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List RF of neonatal fractures
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increased birth weight, osteogenesis imperfecta, spina bifida
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List types of incomplete fractures
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greestick, buckle, plastic deformation
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SALTR mneumonic
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Straight, Above, Lower, Through, Rammed
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Monteggia fracture
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fracture of ulna, disolcation of radial head
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Galeazzi fracture
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fracture of radial shaft, dislocation of distal ulna
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Pulled elbow
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typically 1-4 years after suddent pull to extended arm, child refuse to use arm, holds it pronated and flexed, reduction of annular ligament around radius may cause "pup" noise
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Mallet finger
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avulsion fracture of the distal IP joint
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Lis Franc fracture
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fracture of the base of the 2nd metatarsal
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Scaphoid fracture
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FOOSH, 'snuff box' tenderness, rare in children <12yrs
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Whay are scaphiod fractures rare in children <12
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ossification of scaphoid occurs ~9years
Fractures rarely before 12 |
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Injuries suggestive of non-accidental injury
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metaphyseal corner fractures, spiral fractures of femur, rib fractures, multiple fractures of different ages
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7yo girl fell from play equipment onto fight forwarm. His arm is swollen, he is reluctant to move it but there is no obvious deformity. He has loss of sensation over outer aspect of his little finger. Which nerve is most likely affected?
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Ulna
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Tilaux fracture
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Fracture of the anterolateral tibial epiphysis, adolescents (rare in adults because ligament gives way instead of avulsing tibial fragment from its epiphyseal ligament)
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Varus
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medial deviation of inward bone
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Valgus
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outward deviation of distal bone (lateral)
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A mother presents at GP worried her 2wk old boy has a 'watery eye'. What is she describing? What is most common cause?
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epiphora; lacrimal duct obstruction
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List causes of amblyopia?
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refractive errors, strabismus, ptosis, congenital cataracts
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Risk factors for developing stabismus
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FHx, prematurity, low birth weight, cerebral palsy, intraocular pathology (e.g. cataract, retinoblastoma)
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What is visual acuity at birth? What age would you expect 6/6?
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1/60; 2 years
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What is most common cause of amblyopia?
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1. refractory errors
2. strabismus |
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Occular muscles supplied by CNIII
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superior rectus, inferior rectus, medial rectus, superior oblique, levator palpebrae
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5 year old with sudden onset diploplia, strabismus with fixed, filated ppils. Dx?
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posterior communicating artery aneurysm (CNIII palsy)
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Tropicamide is inserted into eye to aid examination of retina. What sort of drug is this?
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anticholinergic (dilation)
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What is the role of fluorscien in Mx of a red eye
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used to identify defects of cornea
(viewed with cobalt blue light) |
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Mx of amblyopia?
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glasses, patching, atropine
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Mx of strabismus
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squint surgery, botox therapy
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Diploplia in setting of strabismus in a child requires urgent referral as it indicates...
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sudden onset (potential for space occupying lesion, raised ICP)
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myopia
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short-sightedness, CONCAVE axial lenght of eye too long
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Hyperopia
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long sightedness CONVEX
axial lenght of eye is too short Natural growth of eye decreases hyperopia with age |
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coloboma
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full thickness defect in one of the components of eye
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Sty
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also called a hordeolum; usually staphylococcal infection of ciliary follicle on lid margin; should be treated by topical antibiotics; stasis of eye secretions is common underling pathology
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List conditions associated with acute glaucoma in children
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subluxed lens e.g. marfans, homocystinuria
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presenation of acute glaucoma/subluxed lens in children
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pain, blurred vision, cloudy cornea, fixed mid-dilated pupil
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fratures of gonococcus conjunctivitis
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neonate with diffuse redness of conjunctiva + tarsal plate with associated discharge. Gram negative diplococci on swab, discharge purulent rather than watery
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Linear branching dendritic ulcers are most common presentation of ...
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HSV keratitis
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What are dendritc eye ulcesr?
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Earliest sign of active HSV keratitis active viral replciation in corneal epithelium- small, clear vesicles. Treat with topical acyclovir
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LIst causes of congenital cataracts
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prematurity, congenital rubella, galactosemia, inherited (AD)
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when is the critical period of eye development
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first 7-8 years of life
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signs suggestive of pseudostrabismus
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symmetrical light reflections, wide epicanthus, eyes appear turned on side gaze
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What is the most common cause of vision loss in one eye
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ambylopia
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why do children with long standing strabismus NOT have diploplia?
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they suppress the 2nd image
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what is the most import single test for screening children's vision?
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distance acuity test
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a normal visual response at 6wks of age is...
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fixing and following
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an inward turning squint is called a...
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esotropia
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Prior to naming leters for a vision test, what other methodscan be used?
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Sheridan-Gardiner matching
Kays pictures Illiterate E |
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What is truncus arteriosus? How does it present? What syndrome is it associated with?
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Single vessel arises from the heart that branches to form the aorta and pulmonary arteries. Most common presentation is congestive heart failure caused by either excessive pulmonary blood flow or truncal valve insufficiency. Tachypnea, Tachycardia, pan systolic murmur with lour S2. Di George syndrome
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What is Transposition of great arteries? List associated defects and signs and symptoms.
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The aorta arises from the RV and the PA arises from the left ventricle. It is associated with VSD, pulmonary stenosis, ASD, patent ductus arteriosus (PDA)
Cyanosis in the newborn period; tachypnea, murmur soft unless large VSD. Give prostaglandin infusion to maintain DA |
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What is tricuspid artresia? List signs and symptoms
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Agenesis of tricuspid valve
Cyanosis in newborn period; possible excessive pulmonary blood flow and CHF murmur from VSD (pansystolic) or pulmonary stenosis (systolic ejection) |
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What is incidence of congenital heart disease in Australia?
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7-8 per 1000 live births
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List causes of acquired heart disease in children
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inflammatory/immune (e.g. Kawasaki disease)
Infective (e.g. bacterial endocarditis, myocarditis) Post-infective (e.g. rheumatic fever) Pulmonary HTN (secondary to severe lung disease) Associated with metabolic disease Coronary heart disease Supraventricular dyshythmia, most commonly long QT syndrome |
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In what CHD does may cyanosis develop after weeks or months (with gradual increasing right ventricular outflow obstruction)
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Tetralogy of Fallot; may have hypercyanotic spells relieved by knee-chest posture and oxygen
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Causes of cyanosis in the neonatal period
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congenital heart defect (e.g. tetraology of fallot, tricuspid atresia, transposition of great arteries)
Pericardial disease (e.g. effusion, tamponade) Methaemoglobinaemia Cerebral depression with hypoventilation Respiratory disease (RDS, meconium aspiration, TE fistula, choanal atresia, pneumothorax) |
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Describe characteristics of an innocent murmur. What proportion of children have one?
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up to 50%; more apparent during intercurrent illness
No associated with structural or functional heart abnormalities Mid-systolic, not widely heard Asymptomatic Relatively soft <2/6 Oftem 'musical' character Frequently variable with body posture |
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List characteristics of a childhood murmur which prompt investigation?
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Symptoms (cyanosis, respiratory distress, Failure to thrive)
Associated with an abnormal phenotype/syndrome >2/6 intensity; persistent, radiations, associated with abnormal or additional heart sounds, diastolic, present in an infant <12mnths of age |
