Classic Presentation Flashcards

0
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia

Decreases LDL signaling

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1
Q

Abdominal pain
Ascites
Hepatomegaly

A

Budd-Chiari syndrome

Posthepatic venous thrombosis

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2
Q

Adrenal hemorrhage
Hypotension
DIC

A

Waterhouse-Friedrichsen syndrome (meningococcemia)

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3
Q
Arachnodactyly
Lens dislocation
Aortic dissection
Hyperflexible joints
Fibrillin defect
A

Marfan’s syndrome

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4
Q

Athlete with polycythemia

A

EPO INJECTION

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5
Q

Back pain
Fever
Nightsweats
Weight loss

A

Pott’s disease

Vertebral tuberculosis

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6
Q

Bilateral hilar lymphadenopathy

Uveitis

A

Sarcoidosis

Noncaseating granulomas

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7
Q

Blue sclera

A

Osteogenesis imperfecta

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8
Q

Bluish line on gingiva

A

Burton’s line (lead poisoning)

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9
Q

Bone pain
Bone enlargement
Arthritis

A

Paget’s disease of bone

Increased osteoblastic and osteoclastic activity

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10
Q

Bounding pulses
Diatolic heart murmur
Head bobbing

A

Aortic regurgitation

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11
Q

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

A

SLE

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12
Q
Cafe au lait spots
Lisch nodules (iris hamartoma)
A

Neurofibrimatosis I ( + pheochromocytoma, optic gliomas)

Neurofibromatosis II (+ bilateral acoustic neuromas)

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13
Q

Cafe au lait spots
Polyostotic fibrous dysplasia
Precocious puberty

A

McCune-Albright syndrome

Mosaic G-protein signaling mutation

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14
Q

Calf pseudohypertrophy

A
Muscular dystrophy (most commonly Duchenne's) 
X-linked RECESSIVE deletion of DYSTROPHIN gene
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15
Q

“Cherry red spot” on macula

A

Tay-Sachs (ganglioside accumulation)
Or
Niemann-Pick (sphingomyelin accumulation)
Central Retinal Artery Occlusion

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16
Q

Chest pain on exertion

A

Angina

Stable: moderate exertion; unstable: minimal exertion

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17
Q

Chest pain
Pericardial effusion/friction rub
Persistent fever following MI

A

Dressler’s syndrome
(Autoimmune-mediated post MI fibronous pericarditis,
1-12 weeks after acute episode)

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18
Q

Child uses arms to stand up from squat

A

Gower’s sign

DMD

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19
Q

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

A

“Slapped cheeks”
Erythema infectiosum/5th disease
Parvovirus B-19

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20
Q

Chorea
Dementia
Caudate degeneration

A

Huntington’s disease

Autosomal dominant CAG repeat expansion

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21
Q

Chronic exercise intolerance with myalgia
Fatigue
Painful cramps
Myoglobinuria

A

McArdle’s disease

Muscle glycogen phosphorylase deficiency

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22
Q

Cold intolerance

A

Hypothyroidism

23
Q

Conjugate lateral gaze palsy

Horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF; bilateral (MS), unilateral (stroke)

24
Q

Continuous “machinery” heart murmur

A

PDA
(Close with indomethacin;
Open with misoprostol)

25
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Graves disease (periorbital) )

26
Q

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDS patients (gay men): associated with HHV-8

27
Q

Deep, labored breathing

Hyperventilation

A

Kussmaul breathing

DKA

28
Q

Dermatitis
Dementia
Diarrhea

A

Pellagra (niacin Vitamin B3 def)

29
Q

Dilated cardiomyopathy
Edema
Polyneuropathy

A

Wet beriberi (thiamine B1 deficiency)

30
Q

Dog or cat bite resuling in infection

A

Pasteurella multocida (cellulitis at inoculation site)

31
Q

Dry eyes
Dry mouth
Arthritis

A

Sjogren’s syndrome

Autoimmune destruction of exocrine glands

32
Q

Dysphagia (esophageal webs)
Glossitis
Iron deficiency anemia

A

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

33
Q

Elastic skin, hypermobility of joints

A

Ehlers-Dahnlos syndrome (Type III COLLAGEN DEFECT)

34
Q

Enlarged, hard LEFT supraclavicular node

A

Virchow’s node (abdominal metastasis)

35
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign

Hypocalcemia

36
Q

Fat
Female
Forty
Fertile

A

Acute cholelithiasis

Bile duct blockage

37
Q

Fever
Chills
Headache
Myalgia following ATB treament for SYPHILIS

A

Jarisch-Herxheimer reaction

Rapid lysis of spirochetes results in toxin release

38
Q
Fever
Cough
Conjunctivitis
Coryza
Diffuse rash
A

Measles (morbillivirus)

39
Q

Fever
Night sweats
Weight loss

A

B symptoms (Lymphoma)

40
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease

Connective tissue disorder

41
Q

Gout
Mental retardation
Self-mutilating behaviour in boy

A

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

42
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson’s disease)

43
Q

Hamartomatous GI Polyps

Hyperpigmentation of mouth feet and hands

A

Peutz-Jeghers syndrome

Genetic benign polyposis can cause bowel obstruction; increased cancer risk

44
Q

Hepatosplenomegaly
Osteoporosis
Neurologic symptoms

A

Gaucher’s disease

Glucocerebroside def

45
Q

Hereditary nephritis
Sensorineural hearing loss
Cataracts

A

Alport syndrome

Mutation in ALPHA CHAIN OF COLLAGEN IV

46
Q

Hypercoagulability

Leading to migrating DVTs and vasculitis

A

Trousseau’s sign

(Adenocarcinoma of pancreas or lung)

47
Q

Hyperphagia
Hypersexuality
Hyperorality
Hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

48
Q

Hyperreflexia
Hypertonia
Positive Babinski sign

A

UMN LESION

49
Q

HPN
Hypokalemia
Metabolic alkalosis

A

Conn’s syndrome

50
Q

Hyporeflexia
Hypotonia
Atrophy

A

LMN LESION

51
Q

Hypoxemia
Polycythemia
Hypercapnia

A

“Blue bloater”

Chronic bronchitis: hyperplasia of mucous cells

52
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (1 syphilis, Treponema pallidum)

Painful, with exudate: chancroid (H. Ducreyi)

53
Q

Infant with FTT
Hepatosplenomegaly
Neurodegeneration

A

Niemann-Pick disease

Genetic sphingomyelinase deficiency

54
Q

Infant with hypoglycemia
FTT
HEPATOMEGALY

A

Cori’s disease

Debranching enzyme def

55
Q

Keratin pearls on skin biopsy

A

Squamous cell CA