Classic Presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

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2
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium difficile infection

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3
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (dec. LDL receptor signaling)

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4
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friedrichsen syndrome (meningococcemia)

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Anterior “drawer sign” positive

A

Anterior Cruciate ligament injury

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7
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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8
Q

Athlete with polycythemia

A

Secondary to erythropoietin injection

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9
Q

Back pain, fever, night sweats

A

Pott disease (vertebral TB)

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10
Q

Bilateral acoustic schwannomas

A

Neurofibromatosis type 2

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11
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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12
Q

Black eschar on face of patient with diabetic ketoacidosis

A

Mucor or Rhizopus fungal infection

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13
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

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14
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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15
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (inc. osteoblastic and osteoclastic activity)

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16
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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17
Q

“Butterfly” facial rash and Raynaud phenomenon in a young female

A

Systemic lupus erythematosus

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18
Q

Café-Au-Lait spots, Lisch nodules (iris hamartomas), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

Neurofibromatosis type I, pheochromocytoma, optic gliomas

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19
Q

Café-Au-Lait spots (unilateral), polystotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

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

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20
Q

Calf pseudohypertrophy

A

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

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21
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue

A

Kawasaki disease (treat with IVIG and aspirin)

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22
Q

“Cherry-red spots” on macula

A

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

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23
Q

Chest pain on exertion

A

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

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24
Q

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

A

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)

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25
Q

Chest pain with ST depressions on EKG

A

Unstable angina (troponins –) or NSTEMI (troponins +)

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26
Q

Child uses arms to stand up from squat

A

Gowers sign (Duchenne muscular dystrophy)

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27
Q

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

A

“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)

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28
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat expansion)

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29
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

30
Q

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

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

31
Q

Cold intolerance

A

Hypothyroidism

32
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)

33
Q

Continuous “machine-like” heart murmur

A

PDA (close with indomethacin; open or maintain with PGE analogs)

34
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Graves disease [pretibial])

35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome (right-sided cardiac valvular lesions, Inc. 5-HIAA)

36
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated with HHV-8

37
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (diabetic ketoacidosis)

38
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [vitamin B3] deficiency)

39
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine [vitamin B1] deficiency)

40
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

41
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

42
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

43
Q

Elastic skin, hyper mobility of joints, Inc. bleeding tendency

A

Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)

44
Q

Enlarged, hard left supraclavicular node

A

Virchow nodes (abdominal metastasis)

45
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere disease

46
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

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

47
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

48
Q

Fat, female, forty, and fertile

A

Cholelithiasis (gallstones)

49
Q

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

A

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

50
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

51
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

52
Q

Fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease (connective tissue disorder)

53
Q

Golden brown rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson disease)

54
Q

Gout, intellectual disability, self-mutilating behavior in a boy

A

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

55
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

A

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; Inc. cancer risk, mainly GI)

56
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crisis

A

Gaucher disease (glucocerebrosidase deficiency)

57
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

58
Q

Hyperphagia, hyper sexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

59
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

60
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

61
Q

Hypoxemia, polycythemia, hypercapnia (inc. CO2 in blood)

A

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

62
Q

Indurated, ulcerated genital lesion

A

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

63
Q

Infant with “cherry-red” spot on macula, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

64
Q

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

A

Patau syndrome (trisomy 13)

65
Q

Infant with hypoglycemia, hepatomegaly

A

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

66
Q

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

A

Edwards syndrome (trisomy 18)

67
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of the biliary tree)

68
Q

Large rash with bull’s-eye appearance

A

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

69
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

70
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

71
Q

Mucosal bleeding and prolonged bleeding time

A

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