diseases triades Flashcards
Trombocytopenia (bleeding/purpura) + eczema + recurrent pyogenic infections =?
Wescott Aldrich (WATER)
Severe pyogenic infections early in life =?
Hyper IgM
Ataxia + teleangiectasia + IgA deficiency =?
Ataxia - teleangiectasia
Failure to thrive + chronic diarrhea + thrush =?
Severe combined immunodeficiency
DVT + cerebral venous thrombosis + recurrent pregnancy loss =?
Leiden V factor
oozing from IV catheter + mucosal bleeding + skin petechiae/echimosis + end organ damage =?
DIC
DM1 + autoimmune enteritis + eczema =?
IPEX
Painful muscle cramps + red urine + arrythmia =?
McArdle (type 4)
Cardiomegaly + hypertropic cardiomyopathy + hypotonia + exercise intolerance =?
Pompe (type 2)
Hepatomegaly + renomegaly + severe fasting hypoglycemia + incr. lactate in serum + incr. uric acid + inc. glycogen in liver and kidney =?
Von Gierke disease (type 1)
Dermatitis + glossitis + diarrhea =?
B complex deficiencies
Polyneuropathy + symmetrical muscle wasting =?
Dry beri beri
High output CF (dilated cardiomyopathy) + edema =?
Wet beri beri
Confusion + ophtalmoplegia + ataxia = classical triad of?
Wernicke-Korshakow syndrome
Dermatitis + enteritis + alopecia + adrenal insufficiency =?
Vit B5 deficiency