Step 3 Flashcards
X-linked defect in galactosidase, Sx = lower trunk skin lesions, corneal opacity,
renal/cardiac/cerebral disease that are invariably lethal in infancy or childhood
Fabry’s disease
Syndrome of polydactyly + single atrium
Ellins Van Creveldt
Acute pericarditis, develops within 2-4wk after acute MI or heart surgery, may
be due to autoimmune reaction to myocardial antigens
Dresslers
“Pure red cell aplasia,” a conge nital or acquired deficiency in the RBC stem cell.
Congenital disorder is sometimes a/w abnormal facies, cardiac & renal
abnormalities.
Diamond Black Fan syndrome
Treatment for Diamond Black Fan syndrome
steroids
Rickettsial family member, Ehrlichiosis canis, causes acute febrile illness,
malaise, myalgia, severe headache but with no rash. The protracted illness
presents with leukopenia, thrombocytopenia & renal failure
Erlichiosis
How is Erlichiosis contracted?
It is contracted by
tick bites.
Autosomal recessive defect in GpIIbIIIa platelet receptor that binds fibrinogen,
inhibiting platelet aggregation, presents with chronic, severe mucosal bleeds.
Glanzman’s thrombasthenia
Deficiency in cystine metabolism. Sx mimic Marfan’s = lens dislocation
(downward in homocystinuria as opposed to upward in Marfan’s), thin bones,
mental retardation, hypercoagulability & premature atherosclerosis ® strokes &
MIs
Homocystinuria
X-linked lysosomal iduronidase deficiency, less severe than Hurler’s syndrome.
Sx = mild mental retardation, cardiac problems, micrognathia, etc.
Hunter’s syndrome
“Sweaty- foot odor” disease. Caused by a defect in Leucine metabolism, leads to
buildup of isovaline in the bloodstream, producing characteristic odor.
isovalinic syndrome
An expanding hemangioma trapping platelets, leading to systemic
thrombocytopenia
Kasabach Merritt
Toxic encephalopathy from mercury poisoning, classically described from fish
eaten near Japanese mercury dumping site.
Minamata disease
A factitious disorder in which the pt derives gratification form feigning a serious
or dramatic illness. Munchausen’s by proxy is when the pt derives gratification
from making someone else ill (often a mother injures her child for attention).
Munchausen syndrome
Iron deficiency syndrome with classic triad of esophageal web, spoon nail &
iron deficiency anemia. Web produce dysphagia, will regress with iron
replacement.
Plummer Vinson syndrome
Hashimoto’s thyroiditis with diabetes &/or Addison’s disease (autoimmune
syndrome)
Schmidt syndrome
Angina relieved by rest (typical) with a normal angiogram. Caused by
vasospasm of small arterioles, unlike Prinzmetal’s angina, which is vasospasm
of large arteries.
Syndrome X
Autosomal dominant atrial septal defect in association with finger- like thumb or
absent thumb, & cardiac conduction abnormalities & other skeletal defects
Halt Oram syndrome
