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FA > Rapid Review Classic Presentations > Flashcards

Rapid Review Classic Presentations Flashcards

1
Q

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

A

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

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2
Q

Osteogenesis imperfecta (type I collagen defect)

A

Blue sclera, multiple fractures, dental problems, conductive hearing loss

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3
Q

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

A

Elastic skin, hypermobility of joints, bleeding tendency

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4
Q

Marfan syndrome (fibrillin defect)

A

Arachnodactyly, lens dislocation (upward and temporal), aortic dissection, hyperflexible joints

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5
Q

Homocystinuria

A

Arachnodactyly, pectus deformity, lens dislocation (downward)

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6
Q

Cystic fibrosis (CFTR gene defect, chromosome 7, ∆F508)

A

Meconium ileus in neonate, recurrent pulmonary infections, nasal polyps, pancreatic insufficiency, infertility/subfertility

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7
Q

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

A

Calf pseudohypertrophy

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8
Q

Duchenne muscular dystrophy (Gowers sign)

A

Child uses arms to stand up from squat

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9
Q

Becker muscular dystrophy (X-linked non-frameshift deletions in dystrophin; less severe than Duchenne)

A

Slow, progressive muscle weakness in boys

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10
Q

Down syndrome

A

Single palmar crease, intellectual disability

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11
Q

Wet beriberi (thiamine [vitamin B1] deficiency)

A

Dilated cardiomyopathy/high-output heart failure, edema, alcoholism or malnutrition

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12
Q

Vitamin B 5 deficiency

A

Burning feet syndrome

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13
Q

Pellagra (niacin [vitamin B3 ] deficiency)

A

Dermatitis, dementia, diarrhea

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14
Q

Scurvy (vitamin C deficiency: can’t hydroxylate proline/ lysine for collagen synthesis); tea and toast diet

A

Swollen gums, mucosal bleeding, poor wound healing, petechiae, corkscrew hairs, perifollicular hemorrhages

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15
Q

Rickets (children), osteomalacia (adults); vitamin D deficiency

A

Bowlegs (children), bone pain, and muscle weakness

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16
Q

Vitamin K deficiency

A

Hemorrhagic disease of newborn with PT, aPTT

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17
Q

Phenylketonuria

A

Intellectual disability, musty body odor, hypopigmented skin, eczema

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18
Q

Alkaptonuria (homogentisate oxidase deficiency)

A

Bluish-black connective tissue, ear cartilage, sclerae; urine turns black on prolonged exposure to air

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19
Q

Tay-Sachs (ganglioside accumulation; no hepatosplenomegaly); Niemann-Pick disease

A

“Cherry-red spots” on macula

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20
Q

Familial hypercholesterolemia ( LDL receptor signaling)

A

Achilles tendon xanthoma

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21
Q

Scarlet fever (sandpaper rash); Kawasaki disease (lymphadenopathy, high fever for 5 days)

A

“Strawberry tongue”

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22
Q

Waterhouse-Friderichsen syndrome (meningococcemia)

A

Adrenal insufficiency, fever, bilateral adrenal hemorrhage

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23
Q

Klebsiella pneumoniae pneumonia

A

Red “currant jelly” sputum in patients with alcohol overuse or diabetes

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24
Q

Jarisch-Herxheimer reaction (due to host response to sudden release of bacterial antigens)

A

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

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25
Q

Congenital toxoplasmosis

A

Chorioretinitis, hydrocephalus, intracranial calcifications

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26
Q

Hookworm (Ancylostoma spp, Necator americanus)

A

Pruritus, serpiginous rash after walking barefoot

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27
Q

Measles

A

Fever, cough, conjunctivitis, coryza, diffuse rash

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28
Q

Koplik spots (measles [rubeola] virus)

A

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

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29
Q

Aortic regurgitation

A

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

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30
Q

Aortic stenosis

A

Systolic ejection murmur (crescendo-decrescendo), narrow pulse pressure, pulsus parvus et tardus

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31
Q

Beck triad of cardiac tamponade

A

Distant heart sounds, distended neck veins, hypotension

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32
Q

Janeway lesions (infective endocarditis, septic emboli/ microabscesses)

A

Painless erythematous lesions on palms and soles

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33
Q

Infective endocarditis

A

Splinter hemorrhages in fingernails

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34
Q

Roth spots (infective endocarditis)

A

Retinal hemorrhages with pale centers

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35
Q

Primary polydipsia, diabetes insipidus (central, nephrogenic)

A

Polyuria, polydipsia

36
Q

Hyperthyroidism

A

Heat intolerance, weight loss, palpitations

37
Q

Hypothyroidism

A

Cold intolerance, weight gain, brittle hair

38
Q

Myxedema (caused by hypothyroidism or hyperthyroidism [Graves disease])

A

Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue

39
Q

Chvostek sign (hypocalcemia)

A

Facial muscle spasm upon tapping

40
Q

Trousseau sign (hypocalcemia)

A

Carpal spasm upon inflation of BP cuff

41
Q

Diabetic ketoacidosis (Kussmaul respirations)

A

Rapid, deep, labored breathing/hyperventilation

42
Q

Chronic 1° adrenal insufficiency (Addison disease) Žhigh ACTH, high MSH

A

Skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances

43
Q

Acute adrenal insufficiency (adrenal crisis)

A

Shock, altered mental status, vomiting, abdominal pain, weakness, fatigue in patient under glucocorticoid therapy

44
Q

MEN1 (autosomal dominant MEN1 mutation)

A

Pancreatic, pituitary, parathyroid tumors

45
Q

MEN2A (autosomal dominant RET mutation)

A

Medullary thyroid carcinoma, parathyroid hyperplasia, pheochromocytoma

46
Q

Medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas, marfanoid habitus

A

MEN2B (autosomal dominant RET mutation)

47
Q

Carcinoid syndrome ( urinary 5-HIAA); indicates systemic dissemination (eg, post liver metastases)

A

Cutaneous flushing, diarrhea, bronchospasm, heart murmur

48
Q

Mallory-Weiss syndrome (alcohol use disorder, bulimia nervosa)

A

Vomiting blood following gastroesophageal lacerations

49
Q

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

A

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

50
Q

Virchow node (metastasis from abdominal malignancy)

A

Enlarged, hard left supraclavicular node

51
Q

Upper GI bleeding (eg, peptic ulcer disease)

A

Hematemesis, melena

52
Q

Lower GI bleeding (eg, colonic diverticulosis)

A

Hematochezia

53
Q

Rovsing sign (acute appendicitis)

A

Severe RLQ pain with palpation of LLQ

54
Q

McBurney sign (acute appendicitis)

A

Severe RLQ pain with deep tenderness

55
Q

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

A

Severe jaundice in neonate

56
Q

Wilson disease (Kayser-Fleischer rings due to copper accumulation)

A

Golden brown rings around peripheral cornea

57
Q

Cholelithiasis (gallstones)

A

Female, fat (obese), fertile (multiparity), forty, fair

58
Q

Cancer of pancreatic head obstructing the bile duct

A

Painless jaundice with enlarged gallbladder

59
Q

Burton line (lead poisoning)

A

Bluish line on gingiva

60
Q

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

A

Short stature, café-au-lait spots, thumb/radial defects,  incidence of tumors/leukemia, aplastic anemia

61
Q

Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury)

A

Neonate with arm paralysis following difficult birth, arm in “waiter’s tip” position

62
Q

Anterior cruciate ligament injury

A

Anterior drawer sign ⊕

63
Q

Osteitis deformans (Paget disease of bone, osteoblastic and osteoclastic activity)

A

Bone pain, bone enlargement, long bone chalk-stick fractures

64
Q

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

A

Swollen, hard, painful finger joints in an elderly individual, pain worse with activity

65
Q

Gout/podagra (hyperuricemia)

A

Sudden swollen/painful big toe joint, tophi

66
Q

Sjögren syndrome (autoimmune destruction of exocrine glands)

A

Dry eyes, dry mouth, arthritis

67
Q

Reactive arthritis associated with HLA-B27

A

Urethritis, conjunctivitis, arthritis in a male

68
Q

Systemic lupus erythematosus

A

“Butterfly” facial rash, arthritis, cytopenia, and fever in a young female

69
Q

Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin)

A

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

70
Q

Kaposi sarcoma, associated with HHV-8

A

Dark purple skin/mouth nodules in a patient with AIDS

71
Q

Babinski sign (UMN lesion)

A

Dorsiflexion of large toe with fanning of other toes upon plantar scrape

72
Q

Epidural hematoma (middle meningeal artery rupture; branch of maxillary artery)

A

Lucid interval after traumatic brain injury

73
Q

Subarachnoid hemorrhage

A

“Worst headache of my life”

74
Q

Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)

A

Resting tremor, rigidity, akinesia, postural instability, shuffling gait, micrographia

75
Q

Huntington disease (autosomal dominant CAG repeat expansion)

A

Chorea, dementia, caudate degeneration

76
Q

Normal pressure hydrocephalus

A

Urinary incontinence, gait apraxia, cognitive dysfunction

77
Q

Multiple sclerosis

A

Relapsing and remitting nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

78
Q

Guillain-Barré syndrome (acute inflammatory demyelinating polyneuropathy)

A

Rapidly progressive limb weakness that ascends following GI/upper respiratory infection

79
Q

UMN damage

A

Hyperreflexia, hypertonia, Babinski sign present

80
Q

LMN damage

A

Hyporeflexia, hypotonia, atrophy, fasciculations

81
Q

LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead

A

Unilateral facial drooping involving forehead

82
Q

Horner syndrome (sympathetic chain lesion)

A

Ptosis, miosis, anhidrosis

83
Q

Delirium (usually 2° to other cause)

A

“Waxing and waning” level of consciousness (acute onset), low attention span, low level of arousal

84
Q

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

A

Polyuria, renal tubular acidosis type II, growth retardation, electrolyte imbalances, hypophosphatemic rickets

85
Q

Nephrotic syndrome

A

Periorbital and/or peripheral edema, proteinuria (> 3.5 g/ day), hypoalbuminemia, hypercholesterolemia

86
Q

Alport syndrome (mutation in type IV collagen)

A

Hereditary nephritis, sensorineural hearing loss, retinopathy, anterior lenticonus

FA (3 decks)

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