Clinical Presentations Flashcards

1
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decreases LDL receptor signaling)

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2
Q

Adrenal hemorrhage, HoTN, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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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 with polycythemia

A

Secondary to EPO injection

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6
Q

Back pain, fever, night sweats, wt loss

A

Pott’s disease (vertebral TB)

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7
Q

B/l Hilar LAD, hypercalcemia, hypercalcuria, elevated ACE levels, non-caseating granulomas

A

Sarcoidosis

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8
Q

Blue Sclera

A

Osteogenesis imperfecta (type I 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, arthiritis

A

Paget disease of the bone (increased 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 & Raynauds in a young female

A

SLE

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13
Q

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

A

Neurofibromatosis type I (+ 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 a. 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 (autoimmune mediated post-MI fibrinous pericarditis, 1-2 Wks after acute episode)

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19
Q

Child uses arms to stand up from squat

A

Gowers sign (Duchenne Muscular Dystrophy)

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20
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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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, myoglobulinuria

A

McArdle disease (m. 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

INO (internuclear opthalmoplegia): damage to MLF, b/l MS, u/l stroke

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25
Q

Continuous “machine-like” Heart murmur

A

PDA (close with indomethacin, open or maintain with misoprostol)

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26
Q

Cutaneous/dermal edema due to CT deposition

A

Myxedema (caused by HYPOthyroidism, Grave’s Disease&raquo_space; pretibial)

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27
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, HHV-8

28
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (diabetic ketoacidosis)

29
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin, Vit B3, deficiency)

30
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine, Vit 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 endocrine 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

Ehlers-Danlos syndrome (type III collagen deficit)

35
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

36
Q

Erythroderma, LAD, HSM, atypical T cells

A

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

37
Q

Facial m. spasm upon tapping

A

Chvostek sign (HYPOcalcemia)

38
Q

Fat, female, forty, fertile

A

Cholelithiasis

39
Q

Fever, chills, HA, myalgia following antibiotic tx for syphillis

A

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

40
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

41
Q

Fever, night sweats, wt loss

A

B symptoms (staging) of lymphoma

42
Q

Fibrous plaques in soft tissue of penis

A

Peyronie disease (CT disorder)

43
Q

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

A

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

44
Q

Green-yellow rings around periphreal cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson disease)

45
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

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

46
Q

HSM, osteoporosis, neurologic symptoms

A

Gaucher disease (glucocerebrosidase deficiency)

47
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

48
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (b/l amygdala lesion)

49
Q

Hyperreflexia, hypertonia, Babinski sign

A

UMN damage

50
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

51
Q

Hypoxemia, polycythemia, hypercapnia, reid index

A

“Blue Bloater” Chronic bronchitis, hyperplasia of mucus cells

52
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (primary syphillis, Treponema pallidum)

Painful with exudate: chancroid (Haemophilus ducreyi)

53
Q

Infants with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis apalasia

A

Patau syndrome (trisomy 13)

54
Q

Infant with failure to thrive, HSN, 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 (more severe G6P deficiency)

56
Q

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

A

Edwards syndrome (trisomy 18)

57
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

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 TBI

A

Epidural hematoma (MMA rupture)

60
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

61
Q

Mucosal bleeding and prolonged bleeding time

A

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

62
Q

Muffled heart sounds, distended neck vv., HoTN,

A

Becks Triad&raquo_space; Cardiac tamponade

63
Q

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

A

Gardner syndrome (subtype of FAP)

64
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (Lysosomal a-1,4-glucosidase deficiency)

65
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk brachial plexus injury, C5-6, “waiter tip)

66
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)