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Comp/step and beyond > Rapid review > Flashcards

Rapid review Flashcards

1
Q

Gout, intellectual disability, self-mutilating behavior in a

boy

A

Lesch-Nyhan syndrome (HGPRT de!ciency, X-linked

recessive)

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2
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

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3
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect

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4
Q

Elastic skin, hypermobility of joints, 􀁱”bleeding tendency

A

Ehlers-Danlos syndrome (type V collagen defect, type III

collagen defect seen in vascular subtype of ED)

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5
Q

Arachnodactyly, lens dislocation (upward), aortic

dissection, hyperfexible joints

A

Marfan syndrome (fibrillin defect)

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6
Q

Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

McCune-Albright syndrome (mosaic G-protein signaling mutation

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7
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene

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8
Q

Child uses arms to stand up from squat

A

Duchenne muscular dystrophy (Gowers sign)

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9
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne

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10
Q

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

Patau syndrome (trisomy 13

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11
Q

Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

A

Edwards syndrome (trisomy 18)

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12
Q

Single palmar crease

A

Down syndrome

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13
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

wet beriberi (thiamine vitamin B1 deficiency)

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14
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [vitamin B3] deficiency)

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15
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A 
petechiae
Scurvy (vitamin C deficiency: can’t hydroxylate proline/ lysine for collagen synthesis
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16
Q

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency

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17
Q

Infant with hypoglycemia, hepatomegaly

A

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe

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18
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (lysosomal α-1,4-glucosidase deficiency

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19
Q

“Cherry-red spots” on macula

A

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

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20
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises

A

Gaucher disease (glucocerebrosidase deficiency

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21
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (r LDL receptor signaling

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22
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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23
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia

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24
Q

Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

A

Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality

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25
Q

“Strawberry tongue

A

Scarlet fever Kawasaki disease

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26
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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27
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae pneumonia

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28
Q

Large rash with bull’s-eye appearance

A

Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)

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29
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (1° syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi

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30
Q

Pupil accommodates but doesn’t react

A

Neurosyphilis (Argyll Robertson pupil

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31
Q

Smooth, moist, painless, wart-like white lesions on genitals

A

Condylomata lata (secondary syphilis)

32
Q

Fever, chills, headache, myalgia following antibiotic treatment for syphilis

A

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)

33
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

34
Q

Rash on palms and soles

A

Coxsackie A, 2° syphilis, Rocky Mountain spotted feve

35
Q

Black eschar on face of patient with diabetic ketoacidosis

A

Mucor or Rhizopus fungal infection

36
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

37
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measle

38
Q

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

A

Koplik spots (measles [rubeola] virus

39
Q

Back pain, fever, night sweats

A

Pott disease (vertebral TB)

40
Q

Child with fever later develops red rash on face that spreads to body

A

Erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)

41
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium difficile infection

42
Q

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

A

Aortic Regurgitation

43
Q

Systolic ejection murmur (crescendo-decrescendo

A

Aortic stenosis

44
Q

Continuous “machine-like” heart murmur

A

PDA (close with indomethacin; keep open with PGE analogs

45
Q

Chest pain on exertion

A

Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

46
Q

Chest pain with ST depressions on ECG

A

Angina (⊝ troponins) or NSTEMI (⊕ troponins

47
Q

Chest pain, pericardial effusion/friction rub, persistent fever following MI

A

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode

48
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition

49
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/ microabscesses

50
Q

Splinter hemorrhages in fngernails

A

Bacterial endocarditis

51
Q

Retinal hemorrhages with pale center

A

Roth spots (bacterial endocarditis)

52
Q

Distant heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

53
Q

Cervical lymphadenopathy, desquamating rash, coronary
aneurysms, red conjunctivae and tongue, hand-foot
changes

A

kawasaki disease (treat with IVIG and aspirin)- Strawberry tongue

54
Q

Palpable purpura on buttocks/legs, joint pain, abdominal

pain (child), hematuria

A

Henoch-Schönlein purpura (IgA vasculitis affecting skin

and kidneys)

55
Q

Telangiectasias, recurrent epistaxis, skin discoloration,

arteriovenous malformations, GI bleeding, hematuria

A

Hereditary hemorrhagic telangiectasia (Osler-Weber-

Rendu syndrome) disorder of BV

56
Q

Skin hyperpigmentation, hypotension, fatigue

A

1° adrenocortical insuffciency (eg, Addison disease)

causes ? ACTH and ? α-MSH production)

57
Q

Cold intolerance

A

Hypothyroidism

58
Q

Cutaneous/dermal edema due to deposition of

mucopolysaccharides in connective tissue

A

Myxedema (caused by hypothyroidism, Graves disease

[pretibial])

59
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia) -seen in decreased PTH

60
Q

No lactation postpartum, absent menstruation, cold

intolerance

A 
Sheehan syndrome (postpartum hemorrhage leading to
pituitary infarction)
61
Q

Deep, labored breathing/hyperventilation

A

Diabetic ketoacidosis (Kussmaul respirations)

62
Q

Cutaneous fushing, diarrhea, bronchospasm

A 
Carcinoid syndrome (right-sided cardiac valvular lesions,
?5-HIAA)-seretonin
63
Q

Pancreatic, pituitary, parathyroid tumor

A

MEN 1 (autosomal dominant)

64
Q

Thyroid tumors, pheochromocytoma,

ganglioneuromatosis, Marfanoid habitus

A

MEN 2B (autosomal dominant RET mutation)

65
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant RET mutation)

66
Q

Jaundice, palpable distended non-tender gallbladder

A 
Courvoisier sign (distal malignant obstruction of biliary
tree)
67
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

68
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients

69
Q

Dysphagia (esophageal webs), glossitis, iron defciency

anemia

A

plummer-Vinson syndrome (may progress to esophageal

squamous cell carcinoma)- “plummers DIE”

70
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

71
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

72
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

73
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

74
Q

Hamartomatous GI polyps, hyperpigmentation of

mouth/feet/hands/genitalia

A

Peutz-Jeghers syndrome (inherited, benign polyposis can

cause bowel obstruction; ? cancer risk, mainly GI or breast

75
Q

Multiple colon polyps, osteomas/soft tissue tumors,

impacted/supernumerary teeth

A

Gardner syndrome (subtype of FAP)

76
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

77
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated

hyperbilirubinemia)

Comp/step and beyond (3 decks)

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