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41 Cards in this Set

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McArdle
glycogen storage disease

muscle
von Gierke
glycogen storage disease

liver and kidneys
Wilson
Copper metabolism #

liver and brain
Galactosemia
galactose metabolism #

liver, lens, brain
Turcot
CNS: gliomas

GI tract: adenomas
Caroli
congenital malformation bile ducts
May-White
familial progressive myoclonus epilepsy with lipomas, deafness, ataxia
Crigler-Najjar
Unconjugated bili- severe
Gilbert
Unconjugated bili- mild
Dubin-Johnson
conjugated bili- mild
Rotor
conjugated bili- mild
Sturge-weber
leptomeningial angiomatosis, port-wine stain, mental retardation, seizures, hemiplegia
Von hippel lindau
capillary hemangioblastoma
retinal angiomas
renal ca
cysts or ang# any organ
Gardner
fam. colon ca, and osteomas, epidermal cysts, fibromatosis, abnormal teeth, thyroid ca, duodenal ca, pigmented ocular fundus, desmoid tumors
Menkes
copper deficiency -> #collagen crosslinking -> depigmented lusterless hair, facial/ocular/vascular/cerebral #
Milroy
congenital lymphatic malformation / lymphedema
Wermer
MEN 1
parathyroid (hypercalcemia, kidney stones)
pituitary
pancreas (ulcers)
Sipple
MEN 2a
pheochromo
parathyroid
thyroid
shy-drager
ANS failure -> orthostatic hypotension and parkinsonism
Budd-Chiari
IVC or hepatic vein occlusion (caused by malignancy or congenital IVC webs)
Bloom's
auto rec = small body size, immunodeficiency, light-sensitive facial erythema, predisp cancer
Rett
only females, severe impairment, characteristic hand wringing movements
Churg-Strauss
allergic granulomatosis and angiitis -> asthma and eosinophilia and vasculitis
Reye
postviral/aspirin -> enlarged distorted mitochrondria -> esp. liver (disruption biochemical pathways -> microvesicular steatosis), brain (edema). 75% mild, 25% coma, liver failure or cns#, incr ammonia
Wiskott-Aldrich
thrombocytopenia, eczema, recurrent sinopulmonary infections
low IgM, high IgE, IgG, IgA, defective response to polysaccharide antigens (defect T cells prevents binding to B cells)
12% chance of non-hodgkin lymphoma!
Chediak-Higashi
no lysosomal enzymes in phagosomes -> giant inclusions -> infections (neutropenia), albinism, nerve deficits, bleeding diathesis
Tuberous sclerosis
MR, seizures, hypopigment (!!), angiofibromata (adenoma sebaceum), large cortical hamartomas, renal angiomyolipomas, cardial rhabdomyomas
de Quervain
postviral destruction thyroid causing hyper than hypo
Nelson
extreme hyperpigmentation after adrenalectomy
Eisenmenger
shift from L-R shunt to R-L dus to pulm HT
Dressler's
complication MI -> autoimmune fibrinous pericarditis with fever and peripleural chest pain (several weeks after MI)
Peutz-jeghers
polyps (complex branching pattern, benign), melanin spots and incr risk breast/pancreas/overy/uterus/lung ca
Potter
bilateral renal agenesis -> oligohydramnios
Lesch-Nyhan
purine metabolism# (no HGPRT)

aggressive, self-mutilation, gout, gouty nephropathy, yellow-orange crystals of uric acid in diaper
maple syrup disease
branched chain amino acid #

motor abnormalities and seizures
phenylketonuria
aromatic amino acid metabolism #

mental retardation
orotic aciduria
pyrimidine metabolism #

retarder growtha nd development and megaloblastic anemia
homocystinuria
sulfur containing amino acid #

mental retardation, dislocation of lenses, osteoporosis, thrombosis
Binswanger
subcortical leukencephalopathy

Diffuse loss of deep white matter - ass hypertension
Albinism
copper-dependent tyrosinase deficiency -> block production melanin from aromatic amino acid tyrosine
Pickwickian syndrome
= obesity hypoventilation syndrome

obesity and sleep apnea