FA: Rapid Review 2 Flashcards

1
Q

Infant with hyopglycemia, FTT and hepatomegaly

A

Cori disease (debranching enZ deficiency) or Von Gierke Diseaes (Glucose-6-phosphatase deficiency more severe)

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2
Q

Infant w/ microcephaly, rocker-bottom feet, clenched hands and structual heart defect

A

Edwards syndrome (trisomy 18)

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3
Q

Jaundice, palpable distended non-tender GB

A

Corvoisier sign (distal obstruction of biliary tree)

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4
Q

Large rash w/ bull’s eye apperance

A

Eythema chronicum migrans from ixodes tick bite or Lymes

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5
Q

Lucid interval after traumatic brain injury

A

Epidermal hematoma (middle meningeal artery rupture)

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6
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X linked agammaglobulinemia)

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7
Q

Mucosal bleeding and prolonged bleeding time

A

Glanxmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

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8
Q

Muffled heart sounds, distened neck veins, hypotension

A

Beck triad of cardiac tamponade

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9
Q

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumeary teeth

A

Gardner Syndrome (subtype of FAP)

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10
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (lysosomal alpha-1-4-glucosidase deficiency)

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11
Q

Noenate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk, C5-C6, brachial plexus injury; waiters tip)

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12
Q

No lactation postpartum, absent menstration, cold intolerance

A

Sheehan syndrome (pituitary infarction)

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13
Q

Nystagmas, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple Sclerosis

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14
Q

Oscillating slow/fast breathing

A

Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)

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15
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)

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16
Q

Painful, pale, cold fingers/toes

A

Raynaud phenomenon (vasospasm in extremeties)

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17
Q

Painful, raised red lesions on pad of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

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18
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (ineffective endocarditis, septic emboli/ microabscesses)

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19
Q

Painless jaundice

A

Cancer of pancreatic head obstructing bile duct

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20
Q

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria

A

Henoch-Schonlein purprua (IgA vasculitis affecting skin and kidneys)

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21
Q

Pancreatic, pituitary, parathyroid turmors

A

MEN 1 (autosomal dominant)

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22
Q

Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

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23
Q

Pink complexion, dyspnea, hyperventilation

A

“Pink Puffer” (emphysema; centriacinar [smoking], panacinar [alpha-1-trypsin deficiency].

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24
Q

Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets

A

Fanconi syndrome (proximal tubular reabsorption defect)

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25
Q

Pruritic, purple, polygonal planar papules and plaques (6 Ps)

A

Lichen planus

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26
Q

Ptosis, miosis, anhidrosis

A

Horner Syndrome (sympathetic chain lesion)

27
Q

Pupil accommodates but doesn’t react

A

Argyll Roberson pupil (neorosyphilis)

28
Q

Rapidly progressive leg weakness that ascends following GI/UR infection)

A

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

29
Q

Rash on palms and soles

A

Coxsackie A, secondary syphyilis, Rocky Mountain spotted fever

30
Q

Recurrent colds, unusual eczema, high serum IgE

A

Hyper-IgE syndrome (Job syndrome; neutrophil chemotaxis abnormality)

31
Q

Red ‘currant jelly’ sputum in alcoholic or diabetic patients

A

Kleibsiella pneumoniae

32
Q

Red ‘currant jelly’ in stools

A

Acute mesenteric ischemia (adults), intussusception (infants)

33
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of breast (sign of underlying neoplasm)

34
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

35
Q

Renal cell carcinoma (bilateral), hemogioblastomas, angiomatosis, pheochromocytoma

A

von Hippel-Landau disease (dominant tumor suppresor gene mutation)

36
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson disease (nigrostriatal dopamine depletion)

37
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

38
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

39
Q

Severe RLQ pain with palpation of LLQ

A

Rosving sign (acute appendicitis)

40
Q

Severe RLQ pain with rebound tenderness

A

McBurney sign (acute appendicitis)

41
Q

Short stature, increased incidence of tumors/leukemia, aplastic anemia

A

Fanconi anemia (genetic loss of DNA xlink repair; often progresses to AML)

42
Q

Single palmar crease

A

Down syndrome

43
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dyenin arm defect affecting cilia)

44
Q

Skin hyperpigmentation, hypotension, fatigue

A

Addison disease, primary adrenocortical insufficiency causes increase ACTH and increase alpha MSH production

45
Q

Slow, progressive muscle weakness in boys

A

Becker musclular dystrophy (x-linked missense mutation in dystrophin; less severe than Duchenne)

46
Q

Small irregular red spots on buccal/lingual mucosa with blue-white centers

A

Koplik spots (measels; rubeola virus)

47
Q

Smooth, flat, moist, painless white lesions on genitals

A

Conndylomata lata (secondary syphilis)

48
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

49
Q

Strawberry tongue

A

Scarlet fever, Kawasaki disease, toxic shock syndrome

50
Q

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

Turner syndrome (45, XO)

51
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

52
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (vit C deficiency; cant hydroxylate proline/lysine for collagen synthesis

53
Q

Swollen, hard, painful finger joints

A

Osteoarthritis (osteophytes on PIP; Bouchards nodes; DIP (Heberden nodes)

54
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

55
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant ret mutation)

56
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant ret mutation)

57
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

58
Q

Unilateral facial drooping involving forehead

A

Facial nerve (LMN CN VII palsy)

59
Q

Urethritis, conjuctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

60
Q

Vascular birthmark (port-wine-stain)

A

Hemangioma (benign, but associated with Sturge-Weber syndrome)

61
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss Syndrome (alchoholic and bulimic patients)

62
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

63
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage