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34 Cards in this Set

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Young child in easily startled, has insidiously declining neurologic finding, and a cherry-red spot on his macula. Dx?
Tay-Sachs Disease
Tay-Sachs:
-Enzyme defect
-Accumulated substrate
Enzyme: Hexosaminidase A
Substrate: Ganglioside
A-Sachs
Baby becomes hypotonic and weak in early infancy and ultimately dies. This is the third child in the family to have this presentation. Dx?
Pompe's disease
Sounds like floppy
Pompe's disease:
-Enzyme defect
-Class of disorders?
Enzyme: Acid maltase
Class: Glycogen storage dz
Child has brown skin pigmentation and slowly develops deafness, blindness, and dementia. Dx?
Adrenoleukodystrophy
Adrenoleukodystrophy:
-Nature of defects?
Enzymatic defect in peroxisomes
Baby that is slow to grow develops seizures and mental retardation. Diagnosis?
PKU
Urine smells musty.
What organism causes bronchiolitis?
RSV
What organism causes croup?
Parainfluenza
What type of seizures are not associated with loss of consciousness?
Focal seizure
What type of seizures are associated with loss of consciousness and automatisms, which are purposeless movements?
Psychomotor seizures
AMS-movement seizures
Infant is lethargic with a bulging fontanelle and retinal hemorrhages. Dx?
Shaken baby syndrome
Patients with oligodendroglioma usually present how?
Oligodendroglioma -> temporal lobe tumor -> seizures
Baby chokes upon being fed for the first time. Dx?
Choanal atresia
When is meconium aspiration most likely to happen?
During birth: Birth -> ^Pressure -> meconium regurge -> aspiration
Infant has noisy breathing, but is otherwise fine. Dx?
Tracheomalacia: non-rigid trachea
What are the neurocutaneous syndromes?
NF (von Recklinhausen)
Von Hippel-Lindau
Tuberous Sclerosis
What CNS tumors are associated with von Recklinhausen syndrome (NF) and which are associated with von Hippel Lindau syndrome?
von Hippel Lindau: cerebellar hemangioblastomas

NF1: acoustic neuromas, neurilemomas

NF2: acoustic neuromas, meningiomas
Which geneteic disease is associated with acoutic neuromas?
NF
Patient has multiple benign CNS tumors and is retarded. Dx?
Tuberous sclerosis
What is the most common cause of nephrotic syndrome in children?
Minimal change disease
What is the treatment for minimal change disease
Corticosteroids -> Excellent prognosis
Which leukemia are Auer rods pathognomonic for?
ACUTE myelogenous leukemia
Meckel's diverticula are remnants of what?
Omphalomesenteric duct
What two germs cause impetigo?
Staph aureus
B-hemolytic strep
A child has crusty lips and conjunctivitis. The child has a myocardial infarction shortly thereafter. Dx?
Kawasaki's disease
Kids, Konjunctivitis, Krusty lips, and a Koronary
1 mo baby has tender, bullous skin that resembles tissue paper and subsequently desquamates. Dx?
Staphylococcal scalded skin syndrome
Infact has burning rash on upper extremities. Dx?
Miliaria
Which form of muscular dystrophy is the most devastating?
Duchenne.

Becker is an adult-onset milder form.
Dystrophic patient has facial and shoulder girdle weakness. Dx?
Facioscapulohumeral dystrophy
Child has a relapsing polyneuropathy. Physical exam reveal corneal (not lens) opacities and orange-colored tonsils. Routine labs are unremarkable, except for very low HDL levels. Dx?
Tangier's disease

FYI, treatment is not required.
Tangerine-colored tonsils
Child is very sick with febrile illnes, then develops rash as child begins to feel better. Dx?
Roseola
What causes roseola?
Infection with human herpes viruses 6 and 7
Sudanese child is very sick with febrile illness. Patient has usual signs of upper respiratory infection as well as conjunctivitis. Several days later, the child develops a pruritic skin lesion that starts on the head and grows to cover the rest of the body. Dx?
Measles (Rubeola)