diseases triades

Question 1

Trombocytopenia (bleeding/purpura) + eczema + recurrent pyogenic infections =?

Answer 1

Wescott Aldrich (WATER)

Question 2

Severe pyogenic infections early in life =?

Answer 2

Hyper IgM

Question 3

Ataxia + teleangiectasia + IgA deficiency =?

Answer 3

Ataxia - teleangiectasia

Question 4

Failure to thrive + chronic diarrhea + thrush =?

Answer 4

Severe combined immunodeficiency

Question 5

DVT + cerebral venous thrombosis + recurrent pregnancy loss =?

Answer 5

Leiden V factor

Question 6

oozing from IV catheter + mucosal bleeding + skin petechiae/echimosis + end organ damage =?

Answer 6

DIC

Question 7

DM1 + autoimmune enteritis + eczema =?

Answer 7

IPEX

Question 8

Painful muscle cramps + red urine + arrythmia =?

Answer 8

McArdle (type 4)

Question 9

Cardiomegaly + hypertropic cardiomyopathy + hypotonia + exercise intolerance =?

Answer 9

Pompe (type 2)

Question 10

Hepatomegaly + renomegaly + severe fasting hypoglycemia + incr. lactate in serum + incr. uric acid + inc. glycogen in liver and kidney =?

Answer 10

Von Gierke disease (type 1)

Question 11

Dermatitis + glossitis + diarrhea =?

Answer 11

B complex deficiencies

Question 12

Polyneuropathy + symmetrical muscle wasting =?

Answer 12

Dry beri beri

Question 13

High output CF (dilated cardiomyopathy) + edema =?

Answer 13

Wet beri beri

Question 14

Confusion + ophtalmoplegia + ataxia = classical triad of?

Answer 14

Wernicke-Korshakow syndrome

Question 15

Dermatitis + enteritis + alopecia + adrenal insufficiency =?

Answer 15

Vit B5 deficiency

Question 16

Dermatitis + enteritis + alopecia =?

Answer 16

Vit B7.

Question 17

PMs + glossitis + incr. homocysteine =?

Answer 17

vit B9 (macrocytic, megaloblastic anemia)

Question 18

paresthesias + subacute combined degeneration seen in …..?

Answer 18

Megalobastic anemia B12

Question 19

Nausea + vomiting + diarrhea + fatigue + calcium oxalate nephrolithiasis =?

Answer 19

Excess vit C

Question 20

Nyctalopia + keratomalacia + xerosis cutis + Bitot spots + immunosupression = ?

Answer 20

Vit. A deficiency

Question 21

Nausea + vomiting + vertigo + blurred vision =?

Answer 21

acute vit. A excess

Question 22

alopecia + idiopathic intracranial hypertension + dry skin + hepatotoxicity and enlargement + arthralgias =?

Answer 22

chronic vit A excess

Question 23

hypercalciuria + hypercalcemia + stupor + loss of appetite =?

Answer 23

vit D excess

Question 24

hemolytic anemia + acanthocytosis + muscle weakness + impaired position and vibration sensation + ataxia =?

Answer 24

vit E deficiency

Question 25

hypotension + distended neck veins + distant heart sounds =?

Answer 25

Beck triad --> cardiac tamponade

Question 26

unilateral headache + jaw claudication + vessel (....) tenderness =?

Answer 26

Giant cell arteritis (temporal artery)

Question 27

Conjunctivitis + fever+ erythematous rashes on palm/sole + enlarged cervical lymph nodes + strawberry tongue (oral mucositis) =?

Answer 27

Kawasaki disease

Question 28

palpable purpura + artralgias + abdominal pain =?

Answer 28

Henoch Schonlein purpura/IgA vasculitis

Question 29

Hematuria + hemoptysis + dyspnea + chronic sinusitis/otitis media/perforation of nasal septum =?

Answer 29

Wegener (granulomatosis with polyangiitis)

Question 30

Astma/sinusitis + skin nodules/purpura + peripheral neuropathy (wrist/foot drop) =?

Answer 30

Eosinophilic granulomatosis with polyangiitis (Churg strauss)

Question 31

MPO-ANCA/p-ANCA + incr. IgE=?

Answer 31

Churg Strauss

Question 32

Pauci-immune GN = ? 2 diseases

Answer 32

Churg Strauss or microscopic polyangiitis

Question 33

Kidney + lung + palpable purpura + pauci-immune GN + skin =?

Answer 33

Microscopic polyangiitis

Question 34

Palpable purpura + weakness + arthralgias =?

Answer 34

Mixed cryoglobulinemia

Question 35

7-10 days after particular factor palpable purpura + no visceral involvement=?

Answer 35

Cutaneous small-vessel vasculitis

Question 36

Aphthous ulcers + genital ulcerations + uveitis + erythema nodosum=?

Answer 36

Behcet syndrome

Question 37

Multiple syncopal episodes + constitutional symptoms (fever, weight loss)=?

Answer 37

Myxoma in left atrium

Question 38

Blanching lesions (teleangiectasias) on skin and mucous membranes + recurrent epistaxis + skin discoloration + AVMS + GI bleeding + hematuria=?

Answer 38

Hereditary hemorrhagic teleangiectasia