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713 Cards in this Set

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Another name for Henoch-Schonlein purpura
Anaphylactoid purpura
Rx for encopresis
Behavioral modification and reassurance

If retentive, also must clear mass + stool softeners for 3-6mo
What are genu varum and Blount disease?
Bowed legs; latter is if persists past 2yo
What is Legg-Calve-Perthes disease + most common presentation?
Avascular necrosis of the femoral head

Painlses limp
Limp in overweight adolescents
Slipped acpital femoral epiphysis
What is Osgood-Schlatter disease + treatment?
Repeated microfracture of tibial tubercle at insertion of patellar tendon

Overuse injury w/ swelling and knee pain

Rest
Fever, erythema, extremely tender skin, Nikolsky sign, facial crusting
Staphylococcal scalded skin disease
Rx for human bite
Hospitalization for antibitoics and debridgement + healing by secondary intention (granulation)
Where are Baker cysts, and how are they managed?
Popliteal cysts; observation, typically resolve over several years, surgery if associated symptoms
Rx for lice
1% lindane, except in babies (risk of neurotoxicity from transdermal absorption, so use 1% permethrin (Nix))
Hole in the tympanic membrane and prurulent drainage
Acute otitis media
White polyp extending thru tympanic membrane
Cholesteatoma (congenital or acquired): small sac lined w/ epithelium-containing debris

Can present in childern w/ recurrent otitis media
When does umbilical cord normally separate, and what counts as delayed separation?
10-14 days post birth

>1mo
Cause of delayed separation
Leukocyte adhesion deficiency
Rx for umbilical granuloma
Silver nitrate
Omphalocele is covered by -__ but no ___
Peritoneum
Skin
Best booster vaccine at 14yo
Tdap (tetanus toxoid, reduced diphtheria toxoid, acellular pertussis)
Rx for mammalian bites
Irrigation and cleaning
If infant, diabetic, or i/c, antibiotic prophylaxis
Long face, large ears, prominent jaw, macroorchidism, hypotonia, repetitive speech, gaze avoidance, hand flapping, mental retardation
Fragile X syndrome
Inheritance pattern of fragile X syndrome
Dominant X-linked disorder w/ reduced penetrance in females
Friendly, hypercalcemia, short, blue irides, cardiopulmonary abnormalities
Williams syndrome (ch. 7)
Yellow-white lesions w/ surroudning erythema + eosinophils in newborn
Erythema toxicum
Flat vesicular lesions (splotchy red rash) on nape of neck, eyelids, etc., may persist
Salmon patch (nevus simplex)
Pustules --> hyperpigmented lesion upon rupture
Pustular melanosis
Yellow-orange sharply edged hairless lesions on head and neck of infants
Sebaceous nevi
Yellowish white, 1-2mm cysts scattered over the face and gingivae of the neonate
Milia (on the palate, called Epstein pearls)
Small, firm, white, cold patches of skin in exposed areas and treatment
Frostnip

Rewarm before numb
Progression and complications of frostbite
Stinging --> aching --> numb
Once rewarmed --> red, blotchy, painful

Gangrene may develop
Small ulcerated lesions on exposed areas
Chillblains
Destruction of fat cells caused by exposure to cold weather or a cold object
Cold panniculitis
Deficiencies: cheilosis, glossitis, ocular problems (keratitis, conjunctivitis, corneal vascularization), seborrheic dermatitis
Riboflavin deficiency
Deficiencies: seizures, peripheral neuritis, dermatitis, microcytic anemia
Vita B6 deficiency
Four signs of folate deficiency
Megaloblastic anemia, glossitis, pharyngeal ulcers, impaired immunity
Deficiencies: pellagra
Niacin
Deficiencies: dermatitis/ seborrhea
Biotin
Congenital abnormality with bushy eyebrows, hirsutism, limb defects, VSD, mental retardation
Cornelia de Lange syndrome
Painful limp with normal/mildly elevated WBC and ESR (+ recent URI)
Transient synovitis (self-limited)
How soon should NAC be given for acetaminophen poisoning?
16 hours
Rx for salicylate poisoning
Acetazolamide, IV sodium bicarb (hemodialysis if needed)
Toxicity: oculogyric crisis, tremors, torticollis, dysphagia
Phenothiazine
Rx for phenothiazine ingestion
Benadryl (IV or IM)
Rx for iron intoxication (GI symptoms + CV collapse)
Deferoxamine
Rx for methanol intoxication
Induce emesis or gastric lavage
IV ethanol
Hemodialysis if severe
Excess vitamins: hyperostosis (excess bone growth), hepatomegaly, increased CSF pressure, dry skin
Vitamin A
Excess vitamins: skin flushing and pruritis (long-term tachycardia, liver damage, hyperglycemia/uricemia)
Nicotinic acid (vasodilator)
Excess vitamins; kidney stones, diarrhea, cramps
Vitamin C
Excess vitamins: nausea, diarrhea, weight loss, polyuria, soft tissue calcification
Vitamin D
Excess vitamins: sensory neuropathy with altered sensation of touch, pain, and fever
Pyridoxine (B6)
What does the nitroblue tetrazolium test look for?
Chronic granulomatous disease (predilection to infection with catalase positive organisms)
Thrombocytopenia, recurrent infections, ezcema
Wiskott-Aldrich syndrome
Heart defects, abnormal facies, hypocalcemia, thymic aplasia
DiGeorge syndrome (CATCH)
Test for DiGeorge syndrome
Intradermal skin test w/ Candida albicans (will have no result b/c of T cell deficiency)
Consequences of congenital cystic adenomatoid malformation (CCAM)
Cystic illness, compression of affected lung --> pulmonary hypoplasia (Rx is surgical excision of affected lobe)
Pharyngitis, fever w/ severe sore throat, refusal of food, drooling, noisy breathing
Retropharyngeal abscess
Fluctuant mass on neck palpation + sore throat
Retropharyngeal abscess
Rx for chlamydial infection in newborns
Oral macroles (azithromycin): treats both conjunctivitis and pneumonia
Acid-base abnormality in tension pneumo
Uncompensated respiratory acidosis w/ hypoxia but no metabolic acidosis
Rx for bronchiolitis
Monitor fluid status/ oxygenation
Infants born to moms w/ gestational DM are at risk for these respiratory problems
Peripheral nerve injuries (Erb-Duchenne, phrenic nerve paralysis) --> asymmetric diaphragmatic motion in seesaw manner on chest US
Rx for gas, kerosene, or furniture polish inhalation (hydrocarbons -->dyspnea, cyanosis, respiratory failure)
ABG/ pulse ox, intubation if necessary
Recurrent "pneumonias," hemoptysis, digital clubbing, anemia
Idiopathic pulmonary hemosiderosis
Diagnostic method for idiopathic pulmonary hemosiderosis
BAL w/ hemosiderin-laden macrophages
Idiopathic pulmonary hemosiderosis and hypersensitivity to cow's milk + Rx
Heiner syndrome (Rx: remove cow's milk from diet)
Newborn w/ respiratory distress that improves with crying
Choanal atresia
Croup presentation + fever, toxic appearance, biphasic stridor
Bacterial tracheitis
Rx for bacterial tracheitis
Intubation + IV Abx
Comon infection in dirt-eating children
Visceral larva migrans from Toxocara canis (common parasite of dogs)
Rx for sinusitis
Oral Abx for 10-14d
When are sinuses large enough to be infected?
Maxillary/ ethymoid: infancy
Sphenoid: 3-5yo
Frontal: 6-10yo
Drooling, avoidance of foods, cough, choking
Foreign object in esophagus
Rx for ear infection
Amoxicillin 40mg/kg BID, i.e. 80mg/kg daily (high dose for good penetration)
Polyps and eosinophilia on nasal smear
Allergic rhinitis
Respiratory acidosis w/ metabolic compensation
Points to chronic airway obstruction, e.g. from hypertrophied tonsils or adenoids
Ingestions: lethargy, cma, seizures, widened QRS/BBB
TCA poisoning
Ingestions: N, V, diaphoresis, RUQ pain
Tylenol
Rx for TCA ingestion
ICU admit, TCA Fab Ab
Rx for methanol ingestion
Ethanol
Jones criteria: major
Carditis, arthritis, erythema marginatum, chorea, subQ nodules
Jones criteria: minor
Arthralgias, fever, Hx of rheumatic fever, increased ESR or CRP, increased WBC, anemia, prolonged PR and QT
Tetrology of Fallot
VSD
RVH
RV outflow obstruction (pulm stenosis)
Dextroposition of the aorta
Transposition of the great vessels often has these other 2 abnormalities
PFO, hypoplastic L heart syndrome
When should kids w/ FH of early onset CHD be screened hypercholesterolemia?
2yo
Edema around neck + FH
Hereditary angioedema
Turner's is associated w/ this cardiac condition
Aortic coarctation
Down's Syndrome is associated w/ this cardiac condition
VSD/ endocardial cushion defects
Marfan's is associated with these cardiac conditions
Aortic dilation, AR, MR
Risk of congenital heart disease in population, w/ 1 child, w/ 2 children
1%, 2-6%, 20-30%
Murmur of VSD
Harsh or blowing holosystolic best along L lower sternal border
2 most common causes of myocarditis
Adenovirus and coxsackie virus B
Heart rate >250 beats/min indicates
Tachyarrhythmia (up to 200 can be CHF from many causes)
3 first-line treatments for SVT + 1 second-line
Vagal stimulation with:
Carotid massage
Immersion of face in cold water
Voluntary straining
2nd line: IV adenosine
Quadruple rhythm (S3 + S4) + TR + middiastolic murmur at lower left sternum
Ebstein anomaly
What is the Ebstein anomaly
Downward displacement of the tricuspid valve
Hypoplastic LV --> LAD and LVH is seen in this valvular disease
Tricuspid atresia
Congenital heart disease w/ marked, fluffy appearing venous congestion (snowman) on CXR
Total anomalous pulmonary venous return
Early cyanosis, normal sized heart, RAD and RVH
Transposition of the great vessels
Thrombocytopenia, bilateral absence of radius, abnormal thumbs, TOF and/or ASD
Thrombocytopenia absent radius syndrome
Short, downslanting palpebral fissues, ptosis, low set malformed ears, webbed neck, shieldlike chest, pulmonic stenosis, cryptorchidism, mental retardation
Noonan Syndrome (male Turner Syndrome, seen in both sexes)
Noonan syndrome is associated w/
Advanced paternal age
Main complication of neonatal lupus
Congenital heart block (permanent, usually requires pacing); most other manifestations are self-resolved
Common complications of pregnancy-induced HTN
Neonatal hypoglycemia and polycythemia

(Decreased uteroplacental blood flow --> fetal nutritional deprivation/ hypoxemia --> decreased glycogen storage and relative erythrocytosis)
Symptoms of "hyperviscosity syndrome" in newborns
Tremulousness/jitteriness --> seizures due to sludging of blood in cerebral microcirculation
Rx for hyperviscosity syndrome
Parital exchange transfusion
Common complication of postmature infants w/ chronic placental insufficiency (SGA and wasted appearance)
Asphyxia and/or meconium aspiration
Time frame of three types of conjunctivitis
Chemical: 6-12hrs of birth, lasts for 1 day, self-limited

Gonococcal: 2-5d after birth

Chlamydial: 5-14d after birth
Why are infants born to chlamydia-positive mothers not routinely treated with oral Abx?
Increased incidence of hypertrophic pyloric stenosis among neonates having received erythromycin
What is hyaline membrane disease?
Infant respiratory distress syndrome
Lung compliance, volume, and direction of blood shunt in infant respiratory distress syndrome
Decreases, decreases, and right --> left (From PDA or PFO or in lungs)
Most common TEF is
Blind esophageal pouch (below it, distal esophagus is connected to the trachea)
Teratogens: when is phenytoin dangerous
1st trimester
Teratogens: propanolol
Growth retardation, decreased ability to increase HR and CO, hypoglycemia, apnea
Bile stained vomitus indicates obstruction is where?
Distal to ampulla of Vater
Goat's milk contains inadequate ___ and ___
Folate, iron
Complications of cleft lip/ palate
Recurrent otitis media, hearing loss, speech defects
Which is repaired first, cleft lip or palate?
Clef lip within 3mo, cleft palate btwn 6mo and 5 yrs
Umbilical hernia, distended abdomen, large head/ fontanelles, hypothermia, feeding difficulties, constipation, jaundice
Congenital hypothyroidism
How long do babies with HIV+ moms receive zidovudine for?
6 wks
When is PCP prophylaxis started in HIV+ infants, and with what?
6wks, Bactrim
Weak cry, single umbilical artery, micrognathia, small pelvis, short sternum
Edwards Syndrome (also rocker bottom feet and clenched hands w/ index and third fingers overlapping)
Microcephaly, sloping forehead, scalp cutis aplasia (missing portion of skin and hair), microphthalmia, coloboma, omphalocele, single umbilical artery, hypersensitivity to atropine/ pilocarpine
Patau Syndrome
Another name for endocardial cushion defect?
Complete AV canal
Common lab finding in leukocyte adherence deficiency?
Neutrophilia
Rx for SCID
BM transplant (otherwise death in first 12-24mo)
Supplements needed in infants receiving goat's milk
Folate, B12, iron
Possible infection in babies receiving goat's milk
Brucellosis
FTT, bleeding problems, fontanelle fullness, hemolytic anemia
Cystic fibrosis (last three are from deficiencies of vitamins K, A, and E, respectively)
Type of formula used in galactosemia
Soy-based
Causes of rickets
Inadequate vita D, liver failure, renal failure, primary hypophosphatemia
How does liver failure lead to rickets
Low bile salts --> decreased absorption of fat soluble vitamins
Genetics of primary hypophosphatemia
X-linked
Lower extremity bowing with low Ca/ PO4
Familial primary hypophosphatemia
How to distinguish rickets from Schmid metaphyseal dysplasia
Latter has normal Ca, PO4, and alk phos (alk phos almost always increased in rickets)
Short, leg bowing, waddling gait, fractures, normal labs
Schmid metaphyseal dysplasia
Deficiencies: nightblindness, conjunctivitis, keratomalacia
Vitamin A
Deficiencies: hemolytic anemia in premature infants
Vitamin E
Deficiencies: hoarseness, anorexia, restlessness, aphonia
Thiamine (Vita B1)
Deficiencies: neuritis, edema, cardiac failure
Vita B1 (is beriberi)
Deficiencies: cheilosis, glossitis, corneal vascularization
Riboflavin (Vita B2)
Deficiencies: dermentia, dermatitis, diarrhea
Niacin/ Vita B3 (is pellagra)
Deficiencies: irritability, convulsions, anemia
Pyridoxine/ Vita B6 (diff from presentations in adults)
Deficiencies: depression, hypotension, muscle weakness, abd pain
Pantothenic acid
Deficiencies: dermatitis, seborrhea, anorexia, muscle pain, pallor, alopecia
Biotin
Excess: increased ICP, anorexia, hyperostosis (pain and swelling of long bones), alopecia, poor growth
Vita A
Excess: hypercalcemia, azotemia, N/V/D, calcinosis of tissues
Vita D
Excess: kidney stones
Vita C
Excess: flushing, pruritis
Niacin
Excess: sensory neuropathy
Pyridoxine
Intraventricular hemorrhage is often seen in these newborns and often leads to this complication
Preterm

Posthemorrhagic hydrocephalus
Tacypnea, retractions, grunting, maybe cyanosis in a newborn
Transient tachypnea of the newborn
Maculopapular peeling rash, rhinitis, hepatosplenomegaly, lymphadenopathy, saddle nose, interstitial keratitis
Congenital syphilis (also Hutchinson teeth, mulberry molars)
Risks associated w/ maternal cocaine use
Vascular accidents
Causes of apnea in premature infants
Idiopathic apnea
Causes of apnea in term infants
Sepsis, reflux, congenital heart disease, seizures, hypoglycemia, airway obstruction
Signs of meningitis usually absent in neonates
Nuchal rigidity, Kernig/ Brudzinski signs
When to suspect twin-twin transfusion
Difference in hematocrit > 15, difference in body weight > 20%
Donor twin presentation in twin-twin transfusion
Oligohydramnios, anemia, hypovolemia, maybe shock
Recipient twin presentation in twin-twin transfusion
Hydramnios, plethora, hyperviscosity, respiratory distress, hyperbili, hypocalcemia, renal vein thrombosis, CHF, convulsions
Hydramnios refers to
Polyhydramnios
4 conditions associated w/ polyhydramnios
Duodenal atresia, TEF, trisomy 18, anencephaly
Congenital infections: cataracts, IUGR, myocarditis, macular rash, structural heart defects
Rubella
Congenital infections: hydrocephalus, chorioretinitis, intracranial calcifications
Toxoplasmosis
Congenital infections: IUGR, hepatosplenomegaly, jaundice, petechiae, intracranial calcifications, hearing loss
CMV
Most common congenital infection
CMV
Dysmorphic child, bilateral renal agenesis, primary pulmonary hypoplasia
Potter sequence/ oligohydramnios
Aniridia is associated w/
Wilms tumor
Lateral displacement of medial canthia, broad nasal brige, medial hyperplasia of eyebrows, partial albinism, deafness
Waardenburg syndrome
Complications of Sturge-Weber
Vascular malformation in trigeminal nerve distribution, grand mal seizures, mental deficiency, hemiparesis or hemianopsia
Inheritance of tuberous sclerosis
AD
Soft tissue swelling of scalp involving delivery portion of heart that is ecchymotic
Caput succedaneum (self resolves)
Difference between caput succedaneum and cephalohematomas)
Latter doesn't cross suture lines
Fever, muscle rigidity, metabolic and respiratory acidosis, tachycardia, arrhythmia, tachypnea, cyanosis, myoglobinuria, elevated CK, ARF
Malignant hyperthermia
Inheritance of malignant hyperthermia and what the gene codes for
AD
Ryanodine receptor (calcium release channel)
Fever, emesis, multiple sclerosis type MRI
Acute disseminated encephalomyelitis
Rx for ADEM
High-dose corticosteroids
Poor growth, arachnodactyly, osteoporosis, dislocated lenses, mental retardation, thromboembolism
Homocystinuria (thromboemboli can cause acute infantile hemiplegia)
Very large head in normal newborn
Simple primary craniosynostosis (rx: surgery)
Seizure activity with no epileptiform activity on EEG
Pseudoseizure
Differences between pseudoseizure and seizure on exam
Pseudoseizure: no loss of bowel/bladder control, no self-injury, normal pupillary response to light
What is Todd paralysis?
Paralysis after focal or Jacksonian seizure; lasts 24-48hrs
Macular cherry red spots, developmental deterioration and sensitivity to noise
Tay Sachs disease
Enzyme absent in Tay Sachs
Beta-hexosaminidase A
Beta-glucosidase deficiency --> increased tone, strabismus, organomegaly, FTT, stridor, psychomotor regression
Gaucher disease
Beta-galactosidase --> angiokeratomas in bathing suit area + severe pain
Fabry disease
Galactocerebroside beta-galactosidase deficiency --> irritability, seizures, hypertonia, optic atrophy
Krabbe disease
Sphingomyelinase deficiency --> hepatosplenomegaly, LAD, psychomotor retardation w/in first 6mo
Niemann-Pick disease
Psychomotor retardation, ptosis, baldness, hypogonadism, facial immobility, neonatal respiratory distress, cataracts
Myotonic muscular dystophy
Difference btwn myotonic muscular dystrophy and other myopathies
Distal muscle weakness (instead of proximal)
Two things that can terminate migraine headaches
Vomiting or sleep
Three causes of CSF lymphocytosis with elevated protein and low glucose
TB meninigitis, viral meninigitis, meningeal leukemia, and medulloblastoma
Cranial nerve abnormalities, unsteady gait 2/2 spasticity, behavioral changes, UMN signs
Pontine glioma
Brain abscess are more commonly seen in patients with
Cardiac defects that have R --> L shunts associated
When are spinal taps contraindicated?
Increasing intracranial pressure
Unilateral pupillary dilation, hemiplegia, focal seizures, depressed conciousness after a fall
Epidural hematoma
3 components of Cushing's triad for increasing ICP
Increasing BP, decreasing HR, irregular respiration
Tumor causing poor growth, diabetes inspidus, papilledema
Craniopharyngioma
Acute ataxia in kids
Infection or drug intoxication (others would be more chronic)
Most common tumors in kids 1-10yo (vs. <1 or >10)
Infratentorial (posterior fossa: cerebellar and brainstem) vs. supratentorial
Storage diseases: acroparesthesia, intermittent painful crises of extremities or abdomen, cataracts
Fabry disease (deficiency of alpha-galactosidase)
Girl who has lost the use of her hands and ability to communicate/socialize
Rett syndrome
Storage diseases: progressive ataxia, weakness, progressive ataxia, gray macular lesions
Metachromatic leukodystrophy (deficient activity of galactosyl-3-sulfate-ceramide sulfatase)
CSF abnormality in Guillain Barre
High protein
Peroneal and intrinsic foot muscle atrophy, later extending to intrinsic hand muscles and proximal legs
Charcot-Marie-Tooth
Where are the intracranial calcifications in congenital CMV vs. toxo?
CMV: periventricular
Toxo: cortex
Alternative name, cause, and presentation of Werdnig-Hoffman disease
(Infantile progressive) spinal muscular atrophy: anterior horn disease --> hypotonia, weakness, and delayed developmental motor milestones
Migraine headache + aura that involves unilateral sensory or motor signs
Hemiplegic migraine
Migraines are also known as
Migraines
Headache associated w/ menstruation
Vascular headache
What is echolalia?
Automatic repetition of vocalizations made by someone else
Common drug reaction from phenothiazines
Dystonia (neck, arm, or leg spasms)
Rx for dystonia induced by phenothiazines
Diphenhydramine
What is Sydenham chorea?
Acquired chorea of childhood, seeen after group A strep infections (associated w/ rheumatic heart disease)
Other signs seen with Sydenham chorea
Hypotonia, emotionally labile, milkmaid grip, darting tongue, spooning of an extended hand (flexion at wrist and extension of fingers)
Cafe au laits, axillary freckling, Lisch nodules (hamartomas), bony lesions, optic glioma
Neurofibromatosis Type 1 (usually also have neurofibromas)
PHACE syndrome
Posterior fossa malformations
Hemangiomas
Arterial anomalies
Coarctation or other heart problems
Eye abnormalities
Most common first sign of PHACE syndrome
Unilateral facial lesion (similar to Sturge-Weber) + blindness
Large unilateral cafe au lait spots, fibrous dysplasia of bones, precocious puberty, goiter
McCune-Albright Syndrome
Cause of hyaline membrane disease in newborns
Inadequate surfactant production in premies (--> atelectasis --> perfused but non-ventilated alveoli --> hypoxemia)
Most common cause of stroke in childhood
SCA
Teenager with gait ataxia, dysarthria, absence of DTRs, nystagmus
Friedrich ataxia
Affected spinal regions and inheritance of Friedreich ataxia
AR

Spinocerebellar tracts, posterior column, pyramidal tract
Non-neuro complications of Friedreich ataxia
HCOM, diabetes, skeletal deformities (scoliosis and hammer toes); cardiomyopathy is most common cause of death
Macrosomia, macroglossia, visceromegaly, omphalocele, hypoglycemia, hyperinsulinemia
Beckwith-Widermann syndrome
Differentiating congenital hypothyroidism from Beckwith-Wiedemann syndrome
Hypothyroid: umbilical hernia, macrocephaly

BW: omphalocele, microcephaly, pancreatic overactivitiy (hypoglycemia/ hyperinsulinemia)
4 complications of infants of diabetic mothers
Caudal regression syndrome
Duodenal atresia and small L colon
Transposition of great vessels
Anencephaly and NTDs
Findings of WAGR syndrome
Wilms tumor
Aniridia
Genitourinary anomaly
mental Retardation
Most common symptom with sickle cell trait
Painless hematuria
Complications of severe cough in pertussis
Recal prolapse, epistaxis, pneumothoraces
5 times when jaundice in a newborn should be investigated
- If it presents before 24hrs of life
- If > 12 (or >10-14 in premies)
- If direct bili > 2
- Rate of increase is > 5/day
- Persists after 10-14 days
Progressive pancytopenia and macrocytosis, cafe au lait spots, microcephaly, short, horshoe kidneys, absent thumbs
Fanconi's anemia
Macrocytic pure red aplasia w/ congenital anomalies (short stature, webbed neck, clef lip, shielded chest, triphalangeal thumbs
Diamond-Blackfan syndrome (congenital hypoplastic anemia) (Rx is corticosteroids)
Therapy to remove lesions in Sturge-Weber
Argon laser therapy
Rubeola
Measles
Underlying abnormality in HSP
Small vessel vasculitis
Tetrad of HSP
Lower extremity palpable purpura, arthritis/ athralgias, abdominal pain, renal disease
Rx for HSP
Supportive, NSAIDs if in significant pain
What type of infections are most commonly seen in DiGeorge syndrome?
Fungal
Rx for Kawasaki disease
Aspirin and IVIG
Cyanotic infant with left axis deviation
Tricuspid atresia
Glomerular abnormality in HSP
Mesangial deposition of IgA
Risk factors for infant respiratory distress syndrome
Prematurity, maternal diabetes, male sex, cesarean section, perinatal asphyxia
What decreases the risk of infant RDS?
Stress in utero stimulates fetal lung maturity, e.g. prolonged ROM, IUGR, maternal HTN
Rx for Turner's Syndrome with 46X/46XY
Bilateral abdominal gonadectomy (risk of gonadoblastoma)
Congenital infections: hepatomegaly, cutaneous lesions, jaundice, anemia, rhinorrhea
Syphilis
Gland responsible for adrenarche (e.g. axillary hair growth)
Adrenal gland
Clinical concern with premature adrenarche and thelarche?
Limited, usually benign
Clinical concern with premature pubarche (pubic hair growth before the age of 8)
CNS disorder associated in 50%
Which is covered by a protective membrane, gastroschisis or omphalocele?
Ophalocele
Which is associated with other congenital abnormalities gastroschisis or omphalocele?
Omphalocele
Treatment for both gastroschisis and omphalocele?
Vaginal delivery, protective wrapping, orogastric tube, IV antibiotics, surgery
Vitamin deficiency: sore through, hyperemic and edematous oropharyngeal mucous membranes, cheilitis, stomatitis, glossitis, normocytic-normochromic anemia, seborrheic dermatitis, photophobia
Riboflavin
Vitamin deficiency: infantile fulminant cardiac syndrome with cardiomegaly, tachycardia, cyanosis, dyspnea, and vomiting
Infantile beriberi
Vitamin deficiency: symmetric peripheral neuropathy
Dry beriberi
Vitamin deficiency: neuropathy + cardiac involvement (cardiomegaly, cardiomyopathy, CHF, peripheral edema, tachy)
Wet beriberi
Hypoglycemic seizures, lactic acidosis, and hyperlipidemia in a 3mo w/ a doll face, thin extremities, and protuberant abdomen
Von Gierke's disease/ Type 1 glycogen storage disease
Von Gierke's disease is a deficiency of ?
Glucose-6-phosphatase
Floppy baby in first few weeks of life with hepatomegaly, feeding difficulties, macroglossia, and heart failure (disease + deficiency)
Pompe's disease, acid maltase deficiency
How to distinguish type 1 glycogen storage disease from type III?
Type III has elevated liver transaminases, fasting ketosis, and normal lactate and uric acid concentrations
Presentation and major complication of branching enzyme deficiency (type IV glycogen storage disease)
Hepatosplenomegaly and FTT --> cirrhosis
Rx for clavicular fracture during delivery
Nothing!
Most common first symptom of autism
Lack of a social smile
Triad of McCune Albright syndrome
Precocious puberty, cafe au lait spots, and polyostotic fibrous dysplasia (--> multiple bone defects)
GI tract polyposis and mucocutaneous pigmentation
Peutz-Jeghers syndrome
Marfan's + thromboembolic events
Homocystinuria
Homocystinuria is a deficiency of
Cystathionine synthase
Lab findings in homocystinuria
Elevation of both homocysteine and methionine
Rx for homocystinuria
High doses of vita B6; if unresponsive, restriction of methionine along with supplementation of cysteine
When does Becker's muscular dystrophy present?
After 5yo (Duchenne's is before), usually around age 12
Rx for liquid alkali ingestion?
Assess airway; if patent, next step is upper GI endoscopy to assess damage
How and when does transposition usually present?
With cyanosis and tachypnea within the first few days of life
Ingestions: vomiting and agitation progressing to lethargy and restlessness, with convulsions, hyperammonemia, elevated LFTs and LDH, and hypglycemia
Reye's syndrome (salicylate ingestion)
Biopsy of liver, kidneys, or brain in Reye's syndrome reveals
Microvesicular steatosis
Rx for Reye's
Supportive
Rx for scarlet fever?
Penicillin V
Rx for swallowed foreign object
If in esophagus: immediate endoscopic removal

If distal to esophagus: monitor for excretion
Lytic bone lesion + hypercalcemia
Langerhans cell histiocytosis (if solitary long bone lesion)

Primary hyperparathyroidism (usually from parathyroid adenoma) causes multiple lesions
Low temp and jaundice in a neonate
Do FIN work-up: jaundice can be present in sepsis
Rx for pertussis
Macrolide
What are Howell-Jolly bodies, and what do they indicate?
Nuclear remnants of RBCs that are normally removed by the spleen; indicate asplenia (e.g. in SCD)
Work-up and Rx for transient synovitis
None!
Ibuprofen and restriction of weight-bearing
4 criteria that make septic arthritis more likely than transient synovitis and justify a work-up
- Fever
- WBC count > 12
- Refusal to bear weight
- ESR > 40
What does the rash in niacin deficiency look like, and which pts are at risk for niacin deficiency?
Sunburn

Pts with bowel diseases (e.g. ulcerative colitis) who have absorption problems
Vitamin deficiencies: irritability, depression, dermatitis, stomatitis, elevated homocysteine levels (--> atherosclerosis)
Vita B6 (pyridoxine) deficiency
How to distinguish myocarditis from rheumatic fever after a viral prodrome?
Myocarditis causes CHF symptoms, rheumatic fever causes more systemic symptoms
In a CF exacerbation, what bug are you making sure to cover for?
Pseudomonas
Antibiotic regimen for CF exacerbation?
IV ceftazidine (or Zosyn) + IV aminoglycoside (want double coverage)
Rx for impetigo
Topical mupirocin (or oral erhythromycin)
Two most common causative agents of impetigo
GAS and S. aureus
Impetigo is associated with this disease a few weeks afterward?
PSGN
When are IV fluids indicated for rehydration after gastro?
When clinical symptoms of dehydration are present: decreased skin turgor, dry MM, tachy, decreased urine output, delayed cap refill (2-3sec)
Endocrine symptoms, paralysis of vertical gaze, eyelid retraction
Pinealoma
Presentation and Rx for mild (Type I) cases of metatarsus adductus (congenital foot deformity)
Passive and action motion of the foot overcorrect into abduction

Reassurance
Presentation and Rx for moderate (Type II) cases of metatarsus adductus
Motion of the foot corrects into neutral position

Orthoses
Dx and Rx for erythema migrans
Lyme Disease

PO Amoxocillin (50mg/kg/day divided TID for 21 days)

Doxycycline if >9yo
Two X-linked immunodeficiencies
Bruton's and Wiskott-Aldrich
How to differentiate common variable immunodeficiency (CVID) from Bruton's agammaglobulinemia
CVID has decreased IgM, IgG, IgA, and IgE, but normal numbers of circulating B cells (whereas circulating B cells are decreased in Bruton's) and presents with less severe symptoms at a later age (15-35yo instead of 6-9mo)
Bedwetting is normal until what age?
5yo
Mental retardation, hypoplastic maxilla, long philtrum, and microcephaly
Fetal alcohol syndrome
Elevated 17-hydroxyprogesterone
Congenital adrenal hyperplasia
What does the Guthrie test look for?
PKU (presence of metabolic products of phenylalanine in the urine)
Protein content of human milk vs. formula and advantage it conveys
Human milk is 70% whey and 30% casein, and whey is more easily digested and helps improve gastric emptying
Human milk is associated with ____ reflux and colic than formula
Less
Most common complication of untreated ureteral reflux in children
Renal scarring --> ESRD/ HTN
Most common predisposing factor for acute bacterial sinusitis
Viral URI
Failure to pass meconium within first 24hrs often indicates
Hirschsprung's disease
Intramural air in the bowel indicates
Pneumatosis intestinalis, indicating necrotizing enterocolitis
Rx for NEC
Antibiotics
Rx for respiratory distress from foreign body aspiration
Direct laryngoscopy and rigid (NOT flexible) bronchoscopy
Should preemies should be given vaccinations based on their gestational or chronological age?
Chronological
How much do babies need to weight in order to receive the HBV vaccine?
2kg
Leukocoria, sensitivity to light, and excessive lacrimation
Congenital glaucoma
Rx for nursemaid's elbow (child keeps arm pronated, no swelling or deformity)
Rotating hand and forearm to supinated position w/ pressure over radial head (to reduce the annular ligament)
Most common elbow dislocation
Posterior
Tenderness of lateral epicondyle + pain w/ passive wrist flexion and resisted wrist extension
Tennis elbow
Baseball player w/ pain, crepitation, and loss of motion of arm
Osteochondrosis of capitellum (Panner disease)
Clay colored stools, dark urine, enlarged liver + conjugated hyperbili 1-6wks after birth
Biliary atresia
Rx for breastfeeding jaundice
Increase the frequency and duration of feedings to stimulate more milk production
Rx for bili > 17 and for bili > 25
Phototherapy
Exchange transfusion
2wo with bilious vomiting, abdominal distension, and passage of bloodstained stools
Midgut volvulus
Non-bilious projectile vomiting in a 6wo first-born male
Pyloric stenosis
Top 3 causes of ear infections
Strep pneumo, non-typable H influenzae, and Moraxella catarrhalis
Viral causes of rubeola, rubella, and roseola
Measles, german measles, HHV6
Descending rash + fever + lymphadenopathy
Rubella
Risk of rapid drops in sodium level (e.g. from rehydrating with hypotonic solutions)
Cerebral edema
5 long-term neuro sequelae of bacterial meningitis
Hearing loss, loss of cognitive functions (e.g. regression of milestones in kids), seizures, mental retardation, spasticity or paresis
What is alexia
Acquired reading disorder subsequent to brain injury in previously literate pt
Abx choices for septic arthritis
<5: nafcillin (or vanc) + 3rd gen cef
>5: nafcillin (or vanc) alone
Gait disturbances, pes cavus, ataxia, absent ankle jerks
Friedreich's ataxia
Proximal and distal hypotonia since birth, normal social and language skills, and tongue fibrillations
Infantile spinal muscular atrophy (SMA)
Another name for infantile SMA
Werdnig-Hoffman's syndrome
Triple bubble on abdominal XR
Jejunal atresia
Knee pain from repetitive injury sports in adolescent males w/ some edema and tenderness over tibial tubercle
Osgood-Schlatters Disease
Another name for and Rx for Osgood-Schlatters Disease
Traction apophysitis

Activity restriction, stretching, NSAIDs
How to distinguish patellar tendonitis from traction apophysitis
Pts w/ patellar tendonitis have point tenderness at inferior pole of patella
Knee XR with irregularity/ fracture of the tibial tubercle
Traction apophysitis
Feared complication fo meningococcemia
Waterhouse-Friderichsen syndrome (sudden vasomotor collapse and purpura on flanks due to adrenal hemorrhage)
CF is due to what category of mutation
Deletion
Opsonization defect is most commonly due to ___ and leads to infections with ___ organisms
Asplenia
Encapsulated (e.g. S pneumo)
Delayed growth spurt, delayed puberty, and delayed bone age on XR
Constitutional growth delay (will eventually reach a normal height)
Normal birth weight and height, but then growth velocity slows, and child following growth curve at around 5th percentile for multiple years
Constitutional growth delay
Rx for gonococcal conjunctivitis (2nd-5th day of life)
Ceftriaxone
Rx for chlamydial conjunctivitis
Oral erythromycin or reduce risk of chlamydial PNA
Most common cause of polycythemia in newborns
Delayed clamping of the umbilical cord --> excess transfer of placental blood
Most common complications of polycythemia in newborns
Respiratory distress, poor feeding, neuro symptoms (lethargy, irritability, seizures)
Dx and Rx for transposition
Echo
Prostaglandin E1 to stabilize (maintains PDA), then surgery
What type of virus is rubella?
Toga virus
Congenital infections: cardiac anomalies (PDA and ASD), "blueberry muffin spots" (purpura), jaundice, hepatosplenomegaly
Rubella (+ hearing loss and cataracts)
Women are at risk of transmitting rubella during which part of pregnancy
First four weeks if primary infection
Pain in the hip that gradually progresses in a child with sickle cell anemia
Avascular necrosis of the femoral head
By 1yo, how much should a child have grown compared to birth weight?
Triple birth weight
Increase height by 50%
How to distinguish ADHD from hearing impairment?
Hearing impairment also has poor language development and social isolation
Pt normal at birth, then develops muscle weakness and global wasting
Myotonic muscular dystrophy
Definition of myotonia
Delayed muscle relaxation (e.g. inability to release hand after handshake)
Another name for and inheritance of myotonic muscular dystophy
Steinert disease
AD
Other systems involved in myotonic dystophy
Endocrine (DM, testicular atorphy, frontal baldness, hypothyroidism)
Immune
Neuro
Dx for suspected severe GERD
Modified barium swallow with fluorscopy (allows visualization of swallow reflux)
Dx for suspected PUD
Endoscopy (allows for biopsy and culture)
What is Sandifer syndrome?
Condition in which infants arch and become tonic when feeding to protect their airway from refluxing gastric contents
Dx for suspected Sandifer syndrome
Esophageal pH probe
Rx for eosinophilic esophagitis
Corticosteroids and trigger avoidance
XR with dilated loops of bowel and stomach + "curly Q twist of barium
Malrotation
Rx for malro/volvulus
Surgery
Echogenic bowel on prenatal ultrasound, then dilated loops of bowel w/ bubbly or granular appearance on XR at birth
Meconium ileus
Meconium ileus is pathognomonic for
CF
ASCA is often positive in ___ while p-ANCA is often positive in ____
Crohn's
UC
Most serious complication of ulcerative colitis
Toxic megacolon
Rx for Hirschsprung's disease
Surgery
When are reflux meds indicated
Other medical problems (reflux-induced apnea or bradycardia, aspiration PNA, poor weight gain)
Diagnosis of Meckel's diverticulum
Radionucleotide scan (technetium)
Rx of Meckel's
Surgical excision
Dx of lactose intolerance
Hydrogen excretion in breath after oral admin of lactose (or acidic stool pH in presence of reducing substances)
Causes of direct hyperbili (>20) in infants
CF, alpha-1 antitrypsin deficiency, galactosemia, tyrosinemia, infection, choledochal cyst
Moribund appearance indicates dehydration to what extent
>10%
First teeth to erupt
Mandibular central incisors (last are second molars)
Infantile tooth decay, maxillary worse than mandibular
From bottles
Rx for completely avulsed secondary teeth
Dental eval w/in 30 min, ensure not a partial avulsion, transport teeth in milk, saline, or someone's mouth
Caues and largest risk factor for indirect inguinal hernia
Patent processus vaginalis
Prematurity
Cause of direct inguinal hernia
Weak musculature in inguinal canal
Rx for indirect inguinal hernia
Surgery b/c incarceration is common
How to distinguish swallowed maternal blood from fetal hemorrhage
Apt test (fetal Hb unchanged in response to alkali, adult Hb changes to hematin)
Rx for NEC
Abx, surgery only if perforated
Dx of EHEC (from uncooked beef)
Stool Cx on sorbitol-MacKonkey agar or assay for shiga toxin
Vitamin deficiency: diffuse tenderness (esp on legs), poor wound healing, evidence of hemorrhage, irritability, swelling, tachypnea, poor appetite
Vitamin C
Vita deficiency: dry skin, poor growth, impaired cognition
Vita A (+ night blindness)
Ingestions: N/V/D, abd pain, GI bleeding, metabolic acidosis, small opacities on XR
Iron poisoning
Ingestions: lethargy, fever, hyperpnea, vomiting, tinnitus, metabolic acidosis, unremarkable XR
Aspirin poisoning
Ingestions: anorexia, bulging fontanelle (pseudotumor cerebri), hyperirritability, vomiting
Vita A
Ingestions: anorexia, N/V/D, headache, polyuria and polydipsia
Vita D
Infant with equinus and varus of the calcaneum and talus, varus of midfoot, and adduction of forefoot
Clubfoot (talipes equinovarus)
Rx for clubfoot
Stretching and manipulation, followed by serial plastar casts
Rx for RSV
Aerosolized ribavirin
Most serious complications of Kawasaki disease
Giant aneurysm formation, thrombosis, or rupture of the coronary arteries --> MI (so need to perform an echo)
5 major Jones Criteria
Polyarthritis
Carditis
Chorea
SubQ nodules
Erythema marginatum
3 minor Jones criteria
Fever
Arthralgia
Previous rheumatic fever
Rx for rheumatic fever
Benzathine penicillin G (+ AEDs, salicylates, and codeine for chorea, pericarditis, and arthritis, respectively)
Embryologic precursor of neuroblastoma
Neural crest cells
Embryologic precursor of Wilms' tumor
Metanephros
Cause of thrombocytopenia in Wiskott-Aldrich syndrome
Impaired production
Cause of thrombocytopenia in ITP
Production of Abs against platelets
Cause of thrombocytopenia in HUS
Platelet activation and consumption (also seen in DIC and TTP)
Storage disease: adolescent w/ chronic fatigue (anemia), easy bruisability (thrombocytopenia), bone pain, pathologic fractures (Erlenmyer flask deformity of distal femur) and wrinkled paper cells in bone marrow
Gaucher's disease (deficiency of acid beta-glucosidase)
Storage disease: infant w/ FTT, hepatospenomegaly, neurodegeneration
Niemann-Pick disease (deficient sphingomyelinase)
Storage disease: infant w/ hepatospenomegaly and skeletal abnormalities
GM1 gangliosidosis (deficient beta-galactosidase)
Storage disease: child with cherry red macula, neuro symptoms, hepatosplenomegaly
GM2 gangliosidoses, incl. Tay-Sachs' and Sandhoff's (deficiency of hexosaminidase)
Storage disease: bone pain and joint swelling
Farber disease (deficiency of ceramidase --> accumulation of ceramide esp in joints)
Formula mixing for powder and concentrate
Formula: 2 scoops to 4oz water
Concentrate: 1 part concentrate to 1 part water
Caloric requirement from birth to 2mo per day and for pre-emies
100-200cal/kg/day
More (up to 150) for small pre-emies
Pharyngitis, fever, dysphagia, neck stiffness, muffled voice
Retropharyngeal abscess (look for increased space btwn trachea and vertebrae on XR)
Pts with Turner Syndrome are at increased risk for
Osteoporosis
Rx for nephrotic syndrome in kids
Prednisone: 60% is minimal change disease, which is very steroid responsive (add cyclophosphamide if needed)
Differentiate bacterial and viral lymphadenitis
Bacterial is usually unilateral (+ tender, warm, and erythematous); S. aureus is most common; viral may have more systemic symptoms (bilateral, fever, pharyngitis, hepatosplenomegaly)
Non-TB mycobacteria lymphadenopathy
Firm, nontender, small lymphadenopathy
Skin becomes thin and violaceous
What is the only congenital heart disorder that does not develop endocarditis
ASD
Side effect of hydroxyurea
Bone marrow suppression --> leukopenia, anemia, thrombocytopenia
Kids with bronchiolitis (RSV infection) are at increased risk for what later in life?
Asthma
Incidence of cyclic vomiting is high in children whose parents have a history of
Migraine headaches
What is the reticulocyte count in spherocytosis?
High (up to 9%)
Adverse reactions to the DTaP vaccine are usually attributed to which component?
Pertussis
Recurrent infections with staph and aspergillus
Chronic granulomatous disease (impaired oxidative metabolism, predisposing to abscesses from catalase-producing organisms)
Most common congenital obstructive urethral lesion in males (--> oliguria in newborns)
Posterior urethral valves (can lead to a distended bladder, palpable as abdominal mass)
Diagnostic test of choice for suspected posterior urethral valves
VCUG
Worrisome xray finding in NEC
Pneumoperitoneum (indicating intestinal perforation)
Neonate with hypocalcemia seizures
Think about DiGeorge syndrome
Neonate with vomiting, bloody diarhea, stool with RBCs and eosinophils
Milk protein intolerance (may have a FH of atopy)
Most common cause of congenital hypothyroidim
Thyroid dysgenesis
Most common complication of supracondylar fracture
Entrapment of brachial artery (so check the radial pulse)
Newborn with evanescent rash with red halos and eosinophils in the skin lesions
Erythema toxicum
Strongest risk factor for intraventricular hemorrhage
Prematurity/ low birth weight (also exposure to vascular perfusion injuries)
Rx for severe asthma exacerbation that is unresponsive to meds
Mechanical ventilation (intubation)
How to distinguish preseptal and orbital cellulitis
Eyelid symptoms (e.g. discoloration) indicate preseptal

Decreased eye movements or visual acuity, double vision, or proptosis indicate orbital cellulitis (as well as systemic symptoms)
Rx for preseptal vs. orbital cellulitis
Antibiotics for both, but orbital cellulitis requires hospitalization (and possibly surgical decompression)
Neonatal hypoglycemia, macroglossia, visceromegaly, omphalocele, earlobe crease
Beckwith-Widemann syndrome
Self-mutilation, mental retardation, hyperuricemia, dystonia, choreoathetosis, cerebral palsy
Lesch-Nyhan syndrome (deficiency in hypoxanthine-guanine phosphoribosyl transferase)
Diagnostic test for pyloric stenosis
Ultrasound of the abdomen
Penicillin and amoxicillin have no activity against this common skin flora bug
S. aureus
Rx for bacterial lymphadenitis
Dicloxacillin (covers both staph and strep, 2 most common agents)
Microcephaly and IUGR most likely indicate which class of problems
TORCH infection
Pathogenesis of Meckel's diverticulus
Failure of vitelline duct to obliterate during fetal development
Murmur of large VSDs is generally ____ compared to that of small VSDs
Soft
Newborn with hypoplastic nails, cleft palate, vita K deficiency
Fetal hydantoin syndrome (phentyoin use in pregnancy)
5 common GI complications of Down's
Duodenal atresia
Hirschsprung's
Esophageal atresia
Pyloric stenosis
Malro
Type of anemia seen in sickle cell anemia
Hemolytic anemia (hemolysis of sickled cells --> reticulocytosis, hyperbili, elevated LDH with low haptoglobin)
Rx for SCFE
Surgical fixation at current degree of slippage to avoid risk of avascular necrosis
Is an LP necessary with a febrile seizure?
No, unless signs of meningitis present, child already on Abx, or not immunized
How to distinguish a microcytic anemia from iron deficiency vs. thalassemia?
RDW: high (>20%) indicates iron deficiency, normal in thalassemia or anemia of chronic disease
Peripheral blood smear findings in sickle cell
Sickled cells and reticulocytosis
Nocturnal vaginal itching: presumed diagnosis, diagnostic test, and treatment
Vulvovaginitis from pinworm infection
Scotch tape test
Mebendazole
Most common causes of acute bacterial sinusitis
Same as ear infections:
Strep pneumo
Non-typable H flu
Moraxella
Most common cause of viral meningitis
Enteroviruses (PERCH, though not polio: usually echo or coxsackie)
Physical exam manifestation of endocardial cushion defect
Endocardial cushion defect --> pulmonary HTN --> Loud P2 (Rx is early surgery)
Inspiratory noises w/o other complaints; "epiglottis rolling in from side to side" on direct laryngoscopy
Laryngomalacia (aka congenital flaccid larynx)
Rx for laryngomalacia
Reflux precautions
Should resolve by 2yo
Organ with highest M&M after HUS
Kidneys
Why is their jaundice in HUS?
Hemolysis (NOT b/c of liver involvement)
Down's patient w/ torticollis, urinary incontinence, dizzines, UMN signs (leg spasticity, hyperreflexia, positive Babinski)
Alantoaxial instability (due to excessive laxity in posterior transverse ligament, causing increased mobility btwn atlas and axis)
Rx for atlantoaxial instability
Surgical fusion of C1 to C2
How long must disruptive behavior last for conduct disorder diagnosis
1yr
Differentiate btwn conduct disorder and antisocial personality disorder
<18yo for conduct, >18 for antisocial
Differentiate btwn conduct disorder and oppositional defiant disorder
Conduct: older teens, violation of social norms
ODD: late childhood, negativity, hostility, defiance
Definition of infantile colic
Starts before 3wks, crying >3hrs/day, >3 days/wk, >3wks/mo
Rx for infantile colic
Nothing universal: soothing, simethicone, probiotics

Usually resolves by 4mo
Drug that opens PDA
Prostaglandin E1
Drug that closes PDA
Indomethacin
Rx for labial adhesions (benign fusion of labia minora)
Nightly application of estrogen cream + daily petrolatam for 1mo
Lax, wrinkled abdominal wall, dilated urinary tract, intra-abdominal testes, renal dysfunction
Prune belly syndrome
Prune belly syndrome is associated w/ these extra-abdominal effects
Oligohydramnios, clubfeet, hip dislocation, malro
Anorexia, V, polydipsia, polyuria, fevers, glucosuria w/ normal serum glucose, high urine pH, hyperchloremic metabolic acidosis, albuminuria w/ normal serum protein and albumin
Fanconi Syndrome
How to distinguish Type 1 from Type 2 RTA
Type 2 has a normal urine anior gap, where Type 1 (and type 4) have positive urine anion gaps
What is phimosis
Inability to retract the foreskin
When is phimosis normal?
Before 3yo
What is acute lobar nephronia
In between pyelonephritis and renal abscess
Rx for nephronia
Prolonged IV and then PO antibiotics
Orchiopexy (moving an undescended testicle into the scrotum) reduces the risk of?
Testicular torsion (b/c decreases mobility)
Doesn't reduce the risk of testicular malignancy, though does make accessible for periodic exams
What counts as the most sterile urine collection in a child?
Suprapubic tap
PSGN can occur after which two types of strep infections
Pharyngitis or impetigo
Microangiopathic hemolytic anemia, thrombocytopenia from increased platelet utilization, and renal insufficiency from vascular endothelial injury and local fibrin deposition + bloody diarrhea
HUS
Pain relief upon elevation of the testicle
Prehn sign: indicates epididymitis
What is HSP
Systemic IgA-mediated vasculitis
Bag of worms
Varicocele
Rx for varicocele?
Reassurance
May require surgery for infertility later on
Fluid-filled area surrounding testicle that transilluminates
Hydrocele
Rx for hydrocele
Observe, usually resolves by 1yo; larger ones that persist may need surgery
Genetics of Alport syndrome
X-linked dominant
Recurrent gross hematuria + dysuria/abdominal pain
Idiopathic hypercalciuria (stones may form over time)
Rx for acute glomerulonephritis with oliguria
Restrict fluid intake to avoid hypervolemia
Elevated cholesterol and triglycerides + edema
Nephrotic syndrome
Is HTN more likely associate with glomerulonephritis or nephrotic syndrome
Glomerulonephritis, apparently
FTT with constipation, weakness, vomiting, polyuria/polydipsia, dehydration + hypokalemia, hypercalciuria, alkalosis
Bartter Syndrome (juxtaglomerular hyperplasia): also have hyperaldosteronism and hyperreninemia
Is mumps usually unilateral or bilateral?
Unilateral and spreads to the opposite side
Viral infection + sleepiness, emesis, abnormal liver fxn, seizures, coma, respiratory distress, loss of DTRs, posturing
Reye's syndrome
Reye's is a ____ caused by ___ and ____
Mitochondrial hepatopathy
Influenza or varicella infection + aspirin use
Cause of death in Reye's
Cerebral edema and subsequent herniation
What is Ekiri syndrome?
Rare and fatal toxic encephalopathy seen with Shigella infection
Rx for shigellosis
Supportive care and third generation cephalosporin
Major cause of tinea capitis
Tricophyton tonsurans
Rx for trichophyton tonsurans
Oral griseofulvin
Linear hair loss + regional adenopathy
Traction alopecia
Hairs near area of hair loss that can be extracted w/ gentle traction --> attenuated or catagen bulb at termination of hair shaft (exclamation hair)
Alopecia areata
Is mumps usually unilateral or bilateral?
Unilateral and spreads to the opposite side
Viral infection + sleepiness, emesis, abnormal liver fxn, seizures, coma, respiratory distress, loss of DTRs, posturing
Reye's syndrome
Reye's is a ____ caused by ___ and ____
Mitochondrial hepatopathy
Influenza or varicella infection + aspirin use
Cause of death in Reye's
Cerebral edema and subsequent herniation
What is Ekiri syndrome?
Rare and fatal toxic encephalopathy seen with Shigella infection
Rx for shigellosis
Supportive care and third generation cephalosporin
Major cause of tinea capitis
Tricophyton tonsurans
Rx for trichophyton tonsurans
Oral griseofulvin
Linear hair loss + regional adenopathy
Traction alopecia
Hairs near area of hair loss that can be extracted w/ gentle traction --> attenuated or catagen bulb at termination of hair shaft (exclamation hair)
Alopecia areata
Clinical course of leptospirosis (zoonosis)
Septicemic phase; then most are anicteric and go on to immune phase w/ meningitic symptoms
10% are icteric and can have liver and kidney dysfunction
Rx for leptospirosis
Penicillin and doxycycline
Typical age of Kawasaki disease
<5yo
Rx for newborn baby with pertussis
Erythromycin (mom's Ig is insufficient)
Diffuse adenopathy, tonsillar enlargement, enlarged spleen, small hemorrhages on soft palate, periorbital swelling
EBV
Diff in EBV
Lymphocyte predominance w/ at least 10% atypicals
Rx for mono
Avoid contacts sports b/c of enlarged spleen
When is it not Kawasaki disease?
Teenage pt
What is dacrocystitis?
Infection of nasolacrimal sac
Most common cause of dacrocystitis
Nasolacrimal duct obstruction
Rx for nasolacrimal duct obstruction
Massage and clean w/ warm washcloths; optho referral is not open by 6mo
What is a hyphema
Blood in anterior chamber of eye
Virus causing erythema infectiosum
Parvovirus B19 (Fifth disease)
Other systems involved in mumps
Renal, pancreas, CNS
Common cause of death in Wiskott-Aldrich
Malignancy 2/2 EBV infection in teenage years
Rx for Lyme disease
Penicillin or tetracycline
Family of ticks associated w/ Lyme vs. RMSF
Ixodes vs. Dermacantor
What type of bug is Borrelia?
Spirochete
Pinworm bug
Enterobius vernicularis
Persistent, nonsuppurative diarrhea
Crypto or Giardia
Abdominal pain, N/V; then eyelid edema, myalgia, fever, and eosinophilia
Trichinella spiralis infection from undercooked pork
Close contacts of meningococcemia pt need
Rifampin prophylaxis
Contraindications to LP
Increased ICP WITHOUT open fontanelle; severe thrombocytopenia/ coagulation disorder; CVR distress; skin infection at puncture site
Hypergammaglobulin E, eczema-like rash, and recurrent severe staph infections
Job-Buckley syndrome (disorder of phagocytic chemotaxis)
Rash after administration of amoxicillin
EBV (unknown pathophys, but pathognomonic)
Culture medium for onorrhea
Thayer-Martin media
Lab test suggestive of chlamydia pneumonia
Increased eosinophils in blood
<1yo w/ URI --> severe respiratory distress, pneumatocele, and pneumothorax
Staph pneumonia
Rx-resistant PNA that develops empyema and needs chest tubes placed
Pneumococcal PNA
4 contraindications for contact sports
One eye, hemophilia, single kidney, unexplained syncope
Radionuclide scan results in testicular torsion vs. epididymitis
Decreased uptake in torsion, increased uptake in epididymitis
Test for herpes
Tzanck prep scraping from ulcer w/ multinucleated giant cells and intranuclear inclusions
Unilateral draining lyphadenitis
Lymphogranuloma venereum (caused by subtype of C. trachomatis)
How to distinguish suppurative adenopathy of chancroid from that of LGV?
In chancroid is concurrent; in LGV is after ulcer has healed
Culture medium for Haemophilus ducreyi (chancroid)
Chocolate agar
Most common injuries in swimmers
Shoulder injuries (rotator cuff tendonitis)
Most common injuries in basketball players
Knees (and ankles), esp patellar tendonitis and Osgood-Schlatter
Common skin conditions in wrestlers
Contact dermatitis, fungal infection, HSV, impetigo, staph furunculosis or staph folliculitis
Most common ski injury
Skier's thumb (hyperextension and abduction of thumb)
Jaundice, hepatomegaly, vomiting, seizures on intro of fruit juice
Hereditary fructose intolerance
Children w/ tyrosinemia have problems w/ these 3 organs, one of which is not improved w/ dietary management
Liver (progressive cirrhosis not preventable), kidney, CNS
Storage disease seen in teens + enzyme deficeincy
Gaucher disease, Beta-glucocerebrosidase
Erlenmeyer flask appearance of bone + anemia, leukopenia, and thrombocytopenia
Gaucher disease
Cause of neonatal thyrotoxicosis
Maternally acquired thyrotropin receptor stimulating antibody (which crosses the placenta, unlike TSH)
How to distinguish btwn ovarian tumor/ exogenous estrogen and precocious puberty
Former suppresses pituitary, so no secondary sex characteristics, just isolated premature thelarche or vaginal bleeding w/o pubic hair
White forelock, heterochromia irides, congenital deafness
Waardenburg syndrome (AD)
Most common cause of hypothyroidism (thyromegaly) in kids
Lymphocytic (Hashimoto's) thyroiditis
2 common causes of Cushing's
Glucocorticoid administration and bilateral adrenal hyperplasia
Short, downslanting palpebral fissues, ptosis, low set and malformed ears, broad and webbed neck, shield chest, cryptorchidism, pulmonary stenosis, hearing loss, bleeding diathesis, mental retardation in 25%
Noonan Syndrome
ITP is usually preceded by a?
Viral infection
RX for severe ITP
IVIG, steroids, anti-D Ig, splenectomy if chronic
Levels of free erythrocyte proporphyrin are elevated in these 2 conditions
Iron deficiency and lead poisoning
Most common acquired RBC aplasia in kids
Transient erythroblastopenia of childhood
Congenital anemia with increased RBC ADA levels, short stature, and cranial/ upper extremity abnormalities
Diamond-Blackfan anemia
Increased levels of HbA2 is seen in
Beta-thal train
What is the Kasabach-Merritt phenomenon?
Large vascular anomalies (kaposiform hemangioendothelioma and tufted angioma) sequest platelets and RBCs --> thrombocytopenia, coagulopathy, and microangiopathic hemolytic anemia
Rx for Kasabach-Merritt phenomenon
Steroids, alpha-INF, and vincristine (no surgery! --> excessive bleeding
Another name for port wine stain
Nevus flammeus
Cells seen in G6PD deficiency
Bite cells (RBCs after removal of Heinz bodies)
Retinoblastoma is most commonly (spontaneous vs. hereditary) and (unilateral vs. bilateral)
Spontaneous and unilateral
Cure rate of retinoblastoma
90%, though vision loss is common
Pts w/ hereditary retinoblastoma are at increased risk of
Osteosarcoma
When is physiologic anemia of infancy seen?
Nadir 6-8wks, as erythropoiesis decreases
Anemia in newborn w/ normal retic count and no ABO incompatibility
Fetomaternal transfusion
How to test for fetomaternal transfusion
Keihauer-Betke stain for fetal Hb-containing RBCs in mom's blood
Most common childhood malignancy
Leukemia
Horseshoe kidney and hemihypertrophy are associated w/
Wilms tumor
Wilms associated w/ abnormalities on chromosome
11
Abdominal mass + fever, irritability, bone pain, limp, and diarrhea
Neuroblastoma
Causes of peripheral eosinophilia
Asthma, urticaria, infantile eczema, drug reactions, helminth infections, collagen vascular disease
Allergic rhinitis causes eosinophilia where?
Nasal secretions, not peripheral blood
5 lab findings in DIC
Prolonged PT and PTT, decreased fibrinogen, fibrin split products, increased D-dimer
3 causes of spherocytes other than hereditary spherocytosis
Hyperthermia, G6PD deficiency, ABO incompatibility
Rx for von Willebrand's disease
DDAVP (can also give vWF + Factor VIII if severe)
Sunburst pattern of bone formation
Osteosarcoma
Diffuse LAD, fever, night sweats, malaise, weight loss, pruritis
Hodgkin's
Dx of suspected Hodgkin's
CXR to look for mediastinal mass, then LN biopsy
What are Howell-Jolly bodies and when are they seen?
Small spherical nuclear remnants seen in reticulocytes of pts w/ asplenia or hyposplenia (e.g. in SCA)
Severe anemia requiring transfusions, heart failure, hepatosplenomegaly, weakness
Thalassemia major
Most common finding on peripheral smear in thalassemia
Target cells
What are target cells?
Erythrocyte with membrane too large for its Hb content, seen in alpha-thal, HbC, and liver diseaes
Pregnancy complications more common in teens
Premature delivery, low birth weight, pregnancy-induced HTN, violence risk
Male Tanner Stages
SMR 2: sparse, thin, long pubic hair
SMR 3: darker, curlier pubic hair
SMR 4: adult pubic hair w/o full coverage
SMR 5: pubic hair to inner thigh
(penis lengthening throughout)
Female Tanner Stages
Sparse pubic hair in SMR 2 --> medial thigh by SMR5
SMR 2: breast buds
SMR 3: larger breasts and areola w/o separate areolar contour
SMR 4: elevation of areola
SMR 5: areola part of general breast contour
Rx for suicide attempt w/ nml exam and labs
Hospitalize
Swollen, red, irritated uvula and dental decay
Bulimia
Sport concussion recommendations
LOC --> evaluate at hospital
No LOC, nml w/in 15 min --> return to game
Confusion > 15 min --> out for 1wk
Confusion > 1hr --> hospital
Side effects of isoretinoin
Dry skin/eyes/mucous membranes, MSK pain, IBD, pseudotumor cerebri, corneal opacities, abnormal LFTs, increased TGs and cholesterol
Dehydration, facial and arm hirsutism w/ loss of head hair, bradycardia, amenorrhea
Anorexia
Joint swelling in pt with hemophilia
Hemarthroses (hemophilic arthropathy), w/ iron deposition and synovial thickening + fibrosis
Next option when IV access can't be obtained
Intraosseous access (easier than in adults b/c have less bone density)
Why do we avoid subclavian lines in kids
High incidence of complications (pneumothorax, hemothorax)
Differential for T-wave inversion
MI, myocarditis, old pericarditis, myocardial contusion, dig toxicity
Wide-based gait, decreased vibratory/position sense in legs, absent lower DTRs + inheritance pattern
Friedrich's ataxia (AR)
Most common non=CNS complication of Friedrich's ataxia
Necrosis and degeneration of cardiac muscle fibers --> myocarditis, myocardial fibrosis, and cardiomyopathy (--> arrhythmias and CHF)
Unilateral gynecomastia in a 14yo
Pubertal gynecomastia: reassure
Rx for platelets <30,000
Corticosteroids (platelet transfusion only if actively bleeding, as can often cause further destruction of platelets; splenectomy if life-threatening bleed)
Why does a hyperextended neck provide relief in epiglottitis?
Maximizes the airway diameter
Signs of chronic upper airway obstruction since birth, worse while supine, relieved with neck extension
Vascular ring (rx: surgery)
Cyanosis aggravated by feeding and improved with crying
Choanal atresia
Inspiratory stridor exacerbated by any exertion; symptoms appear w/in first 2 weeks of life with progressive increase in severity; no cyanosis
Laryngomalacia
Precocious puberty + signs of severe androgen excess (e.g. severe acne, rapid growth)
Precocious pseudo-puberty, a gonadotropin-independent process, often caused by late-onset CAH
Heart disease associated w/ neonatal lupus
Congenital heart block
Heart disease associated w/ congenital rubella
PDA
Heart disease associated w/ Edward's syndrome
VSD
Heart disease associated w/ Williams' Syndrome
Supravalvular aortic stenosis
Breathholding spells may be associated w/ this abnormality
Anemia
Craniotabes (ping-pong ball sensation over occiput), rachitic rosary (enlargement of costochondral junctions) and thickening of wrists and ankles
Vitamin D deficiency rickets
Lab findings in Vita D deficiency rickets
Serum calcifediol level is decreased, alk phos is increased
XR findings in rickets
Cupping and fraying of distal ends of long bones; double contour along lateral outline of radius
General tenderness, pseudoparalysis (frog position), bluish-purple and spongy/swollen gums over incisors, and depression of sternum
Vita C deficiency
XR findings in scurvy
Pencil-point thinness of long bone cortex and sharply outlined epiphyseal ends
How to differentiate autism and Asperger's
Asperger kids are more socially aware and communicative; have normal language development
Baby born at home with poor suckling and fatigue followed by rigidity, spasms, and opisthotonus + red and inflamed umbilical stump
Neonatal tetanus
Main causes of death in neonatal tetanus
Apnea or septicemia
Prevention of neonatal tetanus
Maternal immunization
Tests used for neonatal HIV diagnosis
PCR, viral culture, p24 antigen testing (can't test antibodies b/c maternal Abs cross the placenta)
Average survival with neonatal HIV
AIDS by 1yo, death by 3yo (progresses more rapidly)
Empiric Abx for septic arthritis
IV nafcillin or IV cefazolin
Mechanism for improvement of tet spells w/ squatting
Increased systemic vascular resistance (--> increased blood flow ot pulmonary circulation)
In child w/ epidural hematoma, features that necessitate emergent craniotomy
GCS < 8, increased ICP, pupillary abnormalities, hemiparesis, or cerebellar signs
Rx for pts with a small epidural hematoma and no focal neuro signs
F/u CT in 24 hrs
Kids with HSP are at risk for this GI problem
Intussusception
Holosystolic murmur over LLSB and rumbling diastolic murmur over apex
VSD
Rx for vaginal foreign body
Irrigation with warmed fluid first; if unsuccessful, exam and removal with sedation or under general anesthesia
Infants who are SGA are at risk for these 7 complications
Hypoxia, perinatal asphyxia, meconium aspiration, polycythemia, hypothermia, hypoglycemia, hypocalcemia
Paralysis of the left hand and ipsilateral Horner syndrome (miosis and ptosis) after delivery
Klumpke paralysis (brachial plexus injury to C7, C8, and T1)
Absent Moro reflex and intact grasp reflex of affected arm; adduction and internal rotation/ pronation of arm
Erb-Duchenne palsy (C5 and C6)
Craniofacial anomalies, fingernail hypoplasia, growth deficiency, dev't delay, cardiac defects, facial clefts
Phenytoin use during pregnancy
Structure affected in Guillain-Barre
Peripheral nerves
What test should always be done in patients w/ apparent subQ emphysema 2/2 severe coughing paroxysms
CXR to r/o pneumothorax
Rx for chronic granulomatous disease?
Daily TMP-SMX and gamma-INF 3x/wk
Coagulopathy, neuropathy, hepatosplenomegaly, pancytopenia, partial oculocutaneous albinism, frequent bacterial infections (S. aureus) and progressive lymphoproliferative syndrome
Chediak-Higashi Syndrome
Findings diagnostic of Chediak-Higashi syndrome
Neutropenia and giant lysosomes
Chronic pruritic dermatitis, recurrent staph infections, eosinophilia, coarse facial features
Hyper IgE (Job's) syndrome
What must be done prior to surgery for pyloric stenosis?
Stabilization w/ IVF and K+
2 abnormalities where corrective surgery should be delayed until school age
Umbilical hernia
ASD
Neck swelling w/ rotation to one side, resisting rotation or flexion + diagnostic test
Torticollis
Neck XR to r/o cervical spine fracture or dislocation
3 most common causes of acquired torticollis
URIs, minor trauma, cervical lymphadenitis
How to differentiate HSV meningitis from bacterial meningitis
HSV meningitis usually has focal neurologic signs, and fewer band forms on diff
Sail sign on CXR
Thymic shadow (appears very large in kids, but this is normal in kids <2yo)
Infant with FTT, bilateral cataracts, jaundice, and hypoglycemia
Galactosemia
Enzyme deficiency in galactosemia
Galactose-1-phosphate uridyl transferase deficiency
Pts with galactosemia are at increased risk for this infection
E. coli neonatal sepsis
Cataracts in neonatal period
Galactokinase deficiency
Pertussis prevention for close contacts
Erythromycin x 14 days (regardless of age, immunization, or symptoms)
Dx and Rx for acute bacterial sinusitis
Amoxicillin based on clinical, not radiographic findings
Dx for muscular dystrophy
Muscle biopsy
What is postpericardiotomy syndrome?
Reactive pericarditis w/ pericardial effusion that occurs after surgery for congenital heart disease
Dx test for proteinuria w/o hematuria
Repeat 2 more times (is most likely just transient proteinuria)
Rx for Bruton's agammaglobulinemia
IVIG infusion
Rx for suspected congenital diaphragmatic hernia
Orogastric tube w/ continuous suction to prevent bowel distension and further lung compression (followed by intubation)
Rx for exposure to varicella
Vaccine if within 3-5 days of exposure; varicella IG if immunodeficient
When is surgery indicated for umbilical hernias?
If persist to 3-4yo, >2cm, symptomatic, strangulated, or progressively enlarges
Rx for absence seizures
Ethosuximide or valproic acid
2 toxoid vaccines
Tetanus and diphtheria
2 live attenuated vaccines
MMR and chicken pox
Children with congenital heart disease are at increased risk of this CNS pathology
Brain abscess
5 risk factors for brain abscess dev't
Congenital heart disease, head trauma, infection of jaw/mouth/face/scalp, meningitis, cranial instrumentation
Trauma to soft palate + stroke symptoms
Internal carotid artery dissection
How to distinguish Niemann-Pick from Tay Sachs
Hepatomegaly and cervical lymphadenopathy only in NP
Pathophys of infantile botulism
NOT ingestion of preformed toxin; organisms enter GI tract, where they produce the toxin (a protease that blocks ACh release)
Dilation of entire ventricular system w/ distinct enlargement of subarachnoid space over cerebral cortex
Communicating hydrocephalus 2/2 subarachnoid hemorrhage (e.g. from intraventricular hemorrhage)
Imaging difference btwn Dandy-Walker anomaly and Chiari malformation
Dandy-Walker: cystic expansion of fourth ventricle
Chiari: protrusion of structures of posterior fossa thru foramen magnum
Diagnostic test for pyloric stenosis
Abdominal ultrasound
Cause of edema in Turner Syndrome
Abnormal development of lymphatic network
Distinction btwn the arthritis in JRA and in rheumatic fever
Migratory arthritis in rheumatic fever
Scalp swelling limited to surface of one cranial bone
Cephalohematoma (subperiosteal hemorrhage)
Diffuse swelling that crosses suture lines
Caput succedaneum
Pain, pallor, poikilothermia, paresthesias, pulselessness, paralysis
Compartment syndrome
Increased gastric residual volume in a preterm neonate
NEC
Diarrhea, fever, and erythematous rash on abdomen (Rose spots)
Salmonella poisoning
Common organisms:
G+ diplococci
G+ cocci in clusters
G+ rods
G- cocci
G- rods
Strep pneumo
Staph
Listeria and Bacillus
Neisseria
Pseudomonas, Haemophilus, Klebsiella, Legionella
Neonate w/ irritability, high-pitched cry, poor sleeping, seizures, sweating, sneezing, tachypnea, V/D
Neonatal abstinence syndrome (from opioid withdrawal)
Drooling, abdominal distension, rattling breath sounds + atelectasis and gastric distension on XR
Esophageal atresia
Rx for epiglottitis
Intubation w/ preparation for possible tracheostomy
Slowly developing back pain, neuro dysfunction (e.g. incontinence), and palpable "step-off" at lumbosacral area
High-grade spondyloisthesis
Normal at birth, then apathy, weakness, hypotonia, large tongue, sluggish movement, abdominal bloating, umbilical hernia
Congenital hypothyroidism
Test for CF if can't colelct enough sweat during pilocarpine iontophoresis
DNA testing for CFTR mutations
Lims shorter than trunk and head disproportionately large
Achondroplasia
Short but with normal proportions
GH deficiency
Signs of congenital hypothyroidism
Constipation, prolonged jaundice, sluggishness, poor feeding, apnea, choking, macroglossia, excessive sleepiness
Newborn w/ macrosomia, macroglossia, abdominal wall defects, linear ear creases, organomegaly, hypoglycemia
Beckwith-Wiedemann Syndrome
Infants w/ Beckwith-Widemann Syndrome are at increased risk of
Malignancies (esp wilms, hepatoblastoma, and gonadoblastoma)
Born normal and then loss of milestones, umbilical hernia, kyphoscoliosis, deafness, cloudy corneas, claw hand deformity (disease + deficiency)
Hurler syndrome (alpha-L-iduronidase eficiency --> deposition of dermatan and heparan sulfate)
What is the bone age in kids with constitutional short stature?
Few years behind chronological age (indicating still time for a growth spurt)
Inheritance of achondroplasia
AD
Short w/ delayed bone age, mental retardation, increased bone density esp in skull, brachydactyly, obesity w/ round facies and short neck, subcapsular cataracts, cutaneous and subQ calcifications, perivascular calcifications of basal ganglia
Pseudohypoparathyroidism (Albright hereditary osteodystrophy)
Lab findings in pseudohypoparathyroidism
High PTH w/ low Ca and high phosphorous (receptors are resistance to PTH)
Constipation, anorexia, vomiting, polyuria, lethargy after long-term immobilization b/c of fracture
Immobilization hypercalcemia
Dx test for immobilization hypercalcemia
Serum ionized calcium and urinary calcium to creatinine ratio
Complicaitons of immobilization hypercalcemia (and resultant hypercalciuria)
Nephropathy, nephrocalcinosis, hypertensive encephalopathy, convulsions
Hyponatremia, hyperkalemia, hypoglycemia in first 15 days of life
CAH
Urine that turns black when exposed to air (disease + deficiency)
Alkaptonuria (AR), deficiency of homogentisic acid oxidase
Rx for alkaptonuria
None needed; supplemental ascorbic acid may delay onset of arthritis in adults
Cholestasis, elevated LFTs, bleeding into CNS, GI tract, or at umbilical stump
alpha-1 antitrypsin deficiency
Hypoglycemia in a preemie is due to
Decreased glycogen and fat stores
Lab values in nutritional rickets
Normal serum calcium (decreased absorption, but released from bone and decreased excretion), low phosphate (due to phosphaturia), high PTH (stimulated by transient hypocalcemia, causing the other findings), elevated alk phos
Lab findings in vita D resistant rickets + pathophys and inheritance
Low phosphate, normal calcium (genetic abnormality in reabsorption of phosphate), X-linked
Numbness, tingling, seizures
Hypoparathyroidism (--> hypocalcemia and hyperphosphatemia)
Obesity, mental retardation, hypogonadism, polydactylyl, retinitis pigmentosa w/ night blindness
Laurence-Moon-Biedl syndrome (AR)
Sodium and potassium values in pts with central/nephrogenic diabetes insipidus
High Na (losing water), somewhat high K+
Lab findings in hyperaldosteronism
Hypernatremia, hypokalemia (enhancing sodium-potassium exchange), hyperchloremia, alkalosis
Lab findings in pts with hyperlipidemia (e.g. von Gierke's)
Pseudo hyponatremia and hypokalemia
Most common congenital anomaly in Ehlers-Danlos
MVP
Abnormalities of upper extremities, hypoplastic radii, thumb abnormalities, cardiac anomalies, missing pec major (chest wall musculature)
Holt-Oram syndrome