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100 Cards in this Set
- Front
- Back
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CSF abnormality in Guillain Barre
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High protein
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Peroneal and intrinsic foot muscle atrophy, later extending to intrinsic hand muscles and proximal legs
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Charcot-Marie-Tooth
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Where are the intracranial calcifications in congenital CMV vs. toxo?
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CMV: periventricular
Toxo: cortex |
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Alternative name, cause, and presentation of Werdnig-Hoffman disease
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(Infantile progressive) spinal muscular atrophy: anterior horn disease --> hypotonia, weakness, and delayed developmental motor milestones
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Migraine headache + aura that involves unilateral sensory or motor signs
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Hemiplegic migraine
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Migraines are also known as
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Migraines
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Headache associated w/ menstruation
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Vascular headache
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What is echolalia?
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Automatic repetition of vocalizations made by someone else
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Common drug reaction from phenothiazines
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Dystonia (neck, arm, or leg spasms)
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Rx for dystonia induced by phenothiazines
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Diphenhydramine
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What is Sydenham chorea?
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Acquired chorea of childhood, seeen after group A strep infections (associated w/ rheumatic heart disease)
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Other signs seen with Sydenham chorea
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Hypotonia, emotionally labile, milkmaid grip, darting tongue, spooning of an extended hand (flexion at wrist and extension of fingers)
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Cafe au laits, axillary freckling, Lisch nodules (hamartomas), bony lesions, optic glioma
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Neurofibromatosis Type 1 (usually also have neurofibromas)
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PHACE syndrome
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Posterior fossa malformations
Hemangiomas Arterial anomalies Coarctation or other heart problems Eye abnormalities |
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Most common first sign of PHACE syndrome
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Unilateral facial lesion (similar to Sturge-Weber) + blindness
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Large unilateral cafe au lait spots, fibrous dysplasia of bones, precocious puberty, goiter
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McCune-Albright Syndrome
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Cause of hyaline membrane disease in newborns
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Inadequate surfactant production in premies (--> atelectasis --> perfused but non-ventilated alveoli --> hypoxemia)
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Most common cause of stroke in childhood
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SCA
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Teenager with gait ataxia, dysarthria, absence of DTRs, nystagmus
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Friedrich ataxia
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Affected spinal regions and inheritance of Friedreich ataxia
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AR
Spinocerebellar tracts, posterior column, pyramidal tract |
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Non-neuro complications of Friedreich ataxia
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HCOM, diabetes, skeletal deformities (scoliosis and hammer toes); cardiomyopathy is most common cause of death
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Macrosomia, macroglossia, visceromegaly, omphalocele, hypoglycemia, hyperinsulinemia
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Beckwith-Widermann syndrome
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Differentiating congenital hypothyroidism from Beckwith-Wiedemann syndrome
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Hypothyroid: umbilical hernia, macrocephaly
BW: omphalocele, microcephaly, pancreatic overactivitiy (hypoglycemia/ hyperinsulinemia) |
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4 complications of infants of diabetic mothers
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Caudal regression syndrome
Duodenal atresia and small L colon Transposition of great vessels Anencephaly and NTDs |
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Findings of WAGR syndrome
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Wilms tumor
Aniridia Genitourinary anomaly mental Retardation |
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Most common symptom with sickle cell trait
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Painless hematuria
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Complications of severe cough in pertussis
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Recal prolapse, epistaxis, pneumothoraces
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5 times when jaundice in a newborn should be investigated
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- 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 |
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Progressive pancytopenia and macrocytosis, cafe au lait spots, microcephaly, short, horshoe kidneys, absent thumbs
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Fanconi's anemia
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Macrocytic pure red aplasia w/ congenital anomalies (short stature, webbed neck, clef lip, shielded chest, triphalangeal thumbs
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Diamond-Blackfan syndrome (congenital hypoplastic anemia) (Rx is corticosteroids)
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Therapy to remove lesions in Sturge-Weber
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Argon laser therapy
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Rubeola
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Measles
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Underlying abnormality in HSP
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Small vessel vasculitis
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Tetrad of HSP
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Lower extremity palpable purpura, arthritis/ athralgias, abdominal pain, renal disease
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Rx for HSP
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Supportive, NSAIDs if in significant pain
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What type of infections are most commonly seen in DiGeorge syndrome?
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Fungal
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Rx for Kawasaki disease
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Aspirin and IVIG
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Cyanotic infant with left axis deviation
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Tricuspid atresia
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Glomerular abnormality in HSP
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Mesangial deposition of IgA
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Risk factors for infant respiratory distress syndrome
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Prematurity, maternal diabetes, male sex, cesarean section, perinatal asphyxia
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What decreases the risk of infant RDS?
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Stress in utero stimulates fetal lung maturity, e.g. prolonged ROM, IUGR, maternal HTN
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Rx for Turner's Syndrome with 46X/46XY
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Bilateral abdominal gonadectomy (risk of gonadoblastoma)
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Congenital infections: hepatomegaly, cutaneous lesions, jaundice, anemia, rhinorrhea
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Syphilis
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Gland responsible for adrenarche (e.g. axillary hair growth)
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Adrenal gland
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Clinical concern with premature adrenarche and thelarche?
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Limited, usually benign
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Clinical concern with premature pubarche (pubic hair growth before the age of 8)
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CNS disorder associated in 50%
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Which is covered by a protective membrane, gastroschisis or omphalocele?
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Ophalocele
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Which is associated with other congenital abnormalities gastroschisis or omphalocele?
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Omphalocele
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Treatment for both gastroschisis and omphalocele?
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Vaginal delivery, protective wrapping, orogastric tube, IV antibiotics, surgery
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Vitamin deficiency: sore through, hyperemic and edematous oropharyngeal mucous membranes, cheilitis, stomatitis, glossitis, normocytic-normochromic anemia, seborrheic dermatitis, photophobia
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Riboflavin
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Vitamin deficiency: infantile fulminant cardiac syndrome with cardiomegaly, tachycardia, cyanosis, dyspnea, and vomiting
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Infantile beriberi
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Vitamin deficiency: symmetric peripheral neuropathy
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Dry beriberi
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Vitamin deficiency: neuropathy + cardiac involvement (cardiomegaly, cardiomyopathy, CHF, peripheral edema, tachy)
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Wet beriberi
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Hypoglycemic seizures, lactic acidosis, and hyperlipidemia in a 3mo w/ a doll face, thin extremities, and protuberant abdomen
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Von Gierke's disease/ Type 1 glycogen storage disease
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Von Gierke's disease is a deficiency of ?
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Glucose-6-phosphatase
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Floppy baby in first few weeks of life with hepatomegaly, feeding difficulties, macroglossia, and heart failure (disease + deficiency)
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Pompe's disease, acid maltase deficiency
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How to distinguish type 1 glycogen storage disease from type III?
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Type III has elevated liver transaminases, fasting ketosis, and normal lactate and uric acid concentrations
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Presentation and major complication of branching enzyme deficiency (type IV glycogen storage disease)
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Hepatosplenomegaly and FTT --> cirrhosis
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Rx for clavicular fracture during delivery
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Nothing!
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Most common first symptom of autism
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Lack of a social smile
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Triad of McCune Albright syndrome
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Precocious puberty, cafe au lait spots, and polyostotic fibrous dysplasia (--> multiple bone defects)
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GI tract polyposis and mucocutaneous pigmentation
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Peutz-Jeghers syndrome
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Marfan's + thromboembolic events
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Homocystinuria
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Homocystinuria is a deficiency of
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Cystathionine synthase
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Lab findings in homocystinuria
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Elevation of both homocysteine and methionine
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Rx for homocystinuria
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High doses of vita B6; if unresponsive, restriction of methionine along with supplementation of cysteine
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When does Becker's muscular dystrophy present?
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After 5yo (Duchenne's is before), usually around age 12
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Rx for liquid alkali ingestion?
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Assess airway; if patent, next step is upper GI endoscopy to assess damage
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How and when does transposition usually present?
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With cyanosis and tachypnea within the first few days of life
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Ingestions: vomiting and agitation progressing to lethargy and restlessness, with convulsions, hyperammonemia, elevated LFTs and LDH, and hypglycemia
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Reye's syndrome (salicylate ingestion)
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Biopsy of liver, kidneys, or brain in Reye's syndrome reveals
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Microvesicular steatosis
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Rx for Reye's
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Supportive
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Rx for scarlet fever?
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Penicillin V
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Rx for swallowed foreign object
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If in esophagus: immediate endoscopic removal
If distal to esophagus: monitor for excretion |
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Lytic bone lesion + hypercalcemia
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Langerhans cell histiocytosis (if solitary long bone lesion)
Primary hyperparathyroidism (usually from parathyroid adenoma) causes multiple lesions |
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Low temp and jaundice in a neonate
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Do FIN work-up: jaundice can be present in sepsis
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Rx for pertussis
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Macrolide
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What are Howell-Jolly bodies, and what do they indicate?
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Nuclear remnants of RBCs that are normally removed by the spleen; indicate asplenia (e.g. in SCD)
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Work-up and Rx for transient synovitis
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None!
Ibuprofen and restriction of weight-bearing |
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4 criteria that make septic arthritis more likely than transient synovitis and justify a work-up
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- Fever
- WBC count > 12 - Refusal to bear weight - ESR > 40 |
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What does the rash in niacin deficiency look like, and which pts are at risk for niacin deficiency?
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Sunburn
Pts with bowel diseases (e.g. ulcerative colitis) who have absorption problems |
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Vitamin deficiencies: irritability, depression, dermatitis, stomatitis, elevated homocysteine levels (--> atherosclerosis)
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Vita B6 (pyridoxine) deficiency
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How to distinguish myocarditis from rheumatic fever after a viral prodrome?
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Myocarditis causes CHF symptoms, rheumatic fever causes more systemic symptoms
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In a CF exacerbation, what bug are you making sure to cover for?
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Pseudomonas
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Antibiotic regimen for CF exacerbation?
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IV ceftazidine (or Zosyn) + IV aminoglycoside (want double coverage)
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Rx for impetigo
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Topical mupirocin (or oral erhythromycin)
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Two most common causative agents of impetigo
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GAS and S. aureus
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Impetigo is associated with this disease a few weeks afterward?
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PSGN
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When are IV fluids indicated for rehydration after gastro?
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When clinical symptoms of dehydration are present: decreased skin turgor, dry MM, tachy, decreased urine output, delayed cap refill (2-3sec)
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Endocrine symptoms, paralysis of vertical gaze, eyelid retraction
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Pinealoma
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Presentation and Rx for mild (Type I) cases of metatarsus adductus (congenital foot deformity)
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Passive and action motion of the foot overcorrect into abduction
Reassurance |
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Presentation and Rx for moderate (Type II) cases of metatarsus adductus
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Motion of the foot corrects into neutral position
Orthoses |
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Dx and Rx for erythema migrans
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Lyme Disease
PO Amoxocillin (50mg/kg/day divided TID for 21 days) Doxycycline if >9yo |
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Two X-linked immunodeficiencies
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Bruton's and Wiskott-Aldrich
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How to differentiate common variable immunodeficiency (CVID) from Bruton's agammaglobulinemia
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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)
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Bedwetting is normal until what age?
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5yo
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Mental retardation, hypoplastic maxilla, long philtrum, and microcephaly
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Fetal alcohol syndrome
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Elevated 17-hydroxyprogesterone
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Congenital adrenal hyperplasia
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What does the Guthrie test look for?
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PKU (presence of metabolic products of phenylalanine in the urine)
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Protein content of human milk vs. formula and advantage it conveys
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Human milk is 70% whey and 30% casein, and whey is more easily digested and helps improve gastric emptying
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