diseases triades Flashcards

1
Q

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

A

Wescott Aldrich (WATER)

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2
Q

Severe pyogenic infections early in life =?

A

Hyper IgM

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3
Q

Ataxia + teleangiectasia + IgA deficiency =?

A

Ataxia - teleangiectasia

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4
Q

Failure to thrive + chronic diarrhea + thrush =?

A

Severe combined immunodeficiency

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5
Q

DVT + cerebral venous thrombosis + recurrent pregnancy loss =?

A

Leiden V factor

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6
Q

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

A

DIC

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7
Q

DM1 + autoimmune enteritis + eczema =?

A

IPEX

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8
Q

Painful muscle cramps + red urine + arrythmia =?

A

McArdle (type 4)

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9
Q

Cardiomegaly + hypertropic cardiomyopathy + hypotonia + exercise intolerance =?

A

Pompe (type 2)

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10
Q

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

A

Von Gierke disease (type 1)

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11
Q

Dermatitis + glossitis + diarrhea =?

A

B complex deficiencies

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12
Q

Polyneuropathy + symmetrical muscle wasting =?

A

Dry beri beri

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13
Q

High output CF (dilated cardiomyopathy) + edema =?

A

Wet beri beri

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14
Q

Confusion + ophtalmoplegia + ataxia = classical triad of?

A

Wernicke-Korshakow syndrome

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15
Q

Dermatitis + enteritis + alopecia + adrenal insufficiency =?

A

Vit B5 deficiency

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16
Q

Dermatitis + enteritis + alopecia =?

A

Vit B7.

17
Q

PMs + glossitis + incr. homocysteine =?

A

vit B9 (macrocytic, megaloblastic anemia)

18
Q

paresthesias + subacute combined degeneration seen in …..?

A

Megalobastic anemia B12

19
Q

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

A

Excess vit C

20
Q

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

A

Vit. A deficiency

21
Q

Nausea + vomiting + vertigo + blurred vision =?

A

acute vit. A excess

22
Q

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

A

chronic vit A excess

23
Q

hypercalciuria + hypercalcemia + stupor + loss of appetite =?

A

vit D excess

24
Q

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

A

vit E deficiency

25
Q

hypotension + distended neck veins + distant heart sounds =?

A

Beck triad –> cardiac tamponade

26
Q

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

A

Giant cell arteritis (temporal artery)

27
Q

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

A

Kawasaki disease

28
Q

palpable purpura + artralgias + abdominal pain =?

A

Henoch Schonlein purpura/IgA vasculitis

29
Q

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

A

Wegener (granulomatosis with polyangiitis)

30
Q

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

A

Eosinophilic granulomatosis with polyangiitis (Churg strauss)

31
Q

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

A

Churg Strauss

32
Q

Pauci-immune GN = ? 2 diseases

A

Churg Strauss or microscopic polyangiitis

33
Q

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

A

Microscopic polyangiitis

34
Q

Palpable purpura + weakness + arthralgias =?

A

Mixed cryoglobulinemia

35
Q

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

A

Cutaneous small-vessel vasculitis

36
Q

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

A

Behcet syndrome

37
Q

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

A

Myxoma in left atrium

38
Q

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

A

Hereditary hemorrhagic teleangiectasia