Classic Presentations A--L Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari Syndrome (posthepatic veinous thrombosis)

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2
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decreased LDL receptor signaling)

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3
Q

Anterior “drawer” sign

A

ACL injury

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4
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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5
Q

Athlete w/ polycythemia

A

2/2 EPO injection

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6
Q

Back pain, fever, night sweats, weight loss

A

Pott disease (vertebral TB)

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7
Q

Bilateral hilar lymphadenopathy, uveitis

A

sarcoidosis (non caseating granulomas)

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8
Q

Blue sclera

A

osteogenesis imperfecta (type 1 collagen defect)

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9
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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10
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (incr osteoblastic and osteoclastic activity)

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11
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

aortic regurgitation

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12
Q

“butterfly” facial rash and raynaud phenomenon in a young female

A

SLE

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13
Q

Cafe-au-lait spots, Lisch nodules (iris hamartoma)

A

NF Type 1 (+pheochromocytoma, optic gliomas)

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14
Q

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

McCune-Albright syndrome (mosaic G-protein signaling mutation)

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15
Q

Calf pseudohypertrophy

A

muscular dystrophy (most commonly Duchenne): x-linked recessive deletion of dystrophin gene

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16
Q

“cherry red spots” on macula

A

Tay sachs (ganglioside accumulation) or Niemann-pick (sphingomyelin accumulation), central retinal artery occlusion

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17
Q

chest pain on exertion

A

angina (stable: with moderate exertion; unstable: with minimal exertion)

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18
Q

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

A

Dressler syndrome (auto-immune mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

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19
Q

Child uses arms to stand up from squat

A

Gower’s sign (Duchenne muscular dystrophy)

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20
Q

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

A

“slapped cheeks” (erythema infectiosum/5th disease; parvovirus B19)

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21
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat expansion)

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22
Q

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

A

McArdle disease (muscle glycogen phosphorylase deficiency)

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23
Q

cold intolerance

A

Hypothyroidism

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24
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear opthalmoplegia (damage to MLF; bilateral– multiple sclerosis, unilateral–stroke)

25
Q

continuous “machine-like” heart murmur

A

PDA (close with indomethacin; keep open with misoprostol–PGE2)

26
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Graves disease-pretibial myxedema)

27
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated with HHV-8

28
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (DKA)

29
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin B3 deficiency)

30
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine B1 deficiency)

31
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

32
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

33
Q

Dysphagia (esophageal webs), glossitis, iron deficiency, anemia

A

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

34
Q

Elastic skin, hypermobility of joints

A

Ehler-Danlos syndrome (Type 3 collage defect)

35
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

36
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)

37
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

38
Q

Fat, female, forty, fertile

A

Cholelithiasis (gallstones)

39
Q

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

A

Jarisch-Herxheimer rxn (rapid lysis of spirochetes results in toxin release)

40
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

41
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

42
Q

Fibrous plaques in soft tissue of penis

A

Peyronie disease (connective tissue disorder)

43
Q

Gout, intellectual disability, self-mutilating behavior in boy

A

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

44
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (Cu accumulation from Wilson disease)

45
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jehgers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)

46
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher disease (glucocerebrosidase deficiency)

47
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen 4)

48
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

49
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

50
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

51
Q

Hypoxemia, polycythemia, hypercapnia

A

“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)

52
Q

Indurated, ulcerated genital lesion

A

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

53
Q

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

A

Patau Syndrome (trisomy 13)–decreased bHCG, decr PAPP-A, increased nuchal translucency

54
Q

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

55
Q

Infant with hypoglycemia, failure to thrive, and hepatomegaly

A

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

56
Q

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

A

Edwards syndrome (trisomy 18)–decreased PAPPA and free BhCG; quad screen: pan decreased AFP/bHCG/estriol/inhibin; inhibin can be normal

57
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)–indicative of non-gallstone pathology: pancreatic cancer, gallbladder cancer, cholangiocarcinoma, etc

58
Q

Large rash with bull’s eye appearance

A

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

59
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)