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Classic Presentations Flashcards

1
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium difficile infection

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2
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decreased LDLr signaling)

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3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrom (meningococcemia)

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4
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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5
Q

Anterior “drawer sign” positive

A

ACL injury

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6
Q

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

A

Marfan syndrome (fibrillin defect)

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7
Q

Athlete with polycythemia

A

Secondary to EPO injection

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8
Q

Back pain, fever, night sweats

A

Pott syndrome (vertebral TB)

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9
Q

Bilateral acoustic schwannomas

A

Neurofibromatosis type 2

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10
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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11
Q

Black eschar on face of pt with DKA

A

Mucor or Rhizopus fungal infection

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12
Q

Blue sclera

A

Osteogenesis Imperfecta (type I collagen defect)

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13
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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14
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (increased osteoblast and osteoclast activation)

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15
Q

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

A

Aortic regurgitation

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16
Q

“Butterfly” rash on face and raynaud phenomenon in young female

A

SLE

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17
Q

Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

Neurofibromatosis type 1

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18
Q

Cafe-au-lait spots (unilateral), polyostoic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

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

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19
Q

Calf pseudohypertrophy

A

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

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20
Q

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

A

Kawasaki disease (treat with IVIG and aspirin)

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21
Q

“Cherry red spots” on macula

A

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

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22
Q

Chest pain on exertion

A

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

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23
Q

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

A

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

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24
Q

Chest pain with ST depressions on EKG

A

Unstable angina (negative troponins) or NSTEMI (positive troponins)

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25
Q

Child uses arm to stand up from squat

A

Duchenne muscular dystrophy (Gowers sign)

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26
Q

Child with fever develops rash on face that spreads to body

A

Erythema infectiosum/fifth disease (slapped cheeks appearance, caused by parvovirus B19)

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27
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat expansion)

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28
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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29
Q

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

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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30
Q

Cold intolerance

A

Hypothyroidism

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31
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear ophthalmologia (damage to MLF; may be unilateral or bilateral

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32
Q

Continuous “machine-like” heart murmur

A

PDA (closed with indomethacin, keep open with PGE analogs)

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33
Q

Cutaneous/dermal edema due to connective tissue deposition

A

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

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34
Q

Cutaneous flushing, diarrhea, bronchospasm

A

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

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35
Q

Dark purple skin/mouth nodules in patients with AIDS

A

Kaposi sarcoma, associated with HHV-8

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36
Q

Deep, labored breathing/hyperventilation

A

DKA (Kussmaul respirations)

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37
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin (VitB3) deficiency)

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38
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine (VitB1) deficiency)

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39
Q

Dog or cat bites resulting in infection

A

Pasturella multocida (cellulitis at inoculation site)

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40
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

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41
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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42
Q

Elastic skin, hypermobility of joints, increased bleeding tendency

A

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

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43
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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44
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere disease

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45
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly and atypical TCs

A

Mycosis Fungoides (cutaneous TC lymphoma) or Sezary syndrome (mycosis fungoides + malignant TCs in blood)

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46
Q

Facial muscle spasm upon tapping

A

Hypocalcemia (Chvostek sign)

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47
Q

Fat, female, forty, fertile

A

Cholelithiasis (gallstones)

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48
Q

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

A

Mariah-Herxheimer reaction (rapid lysis of spirochetes results in endotoxins release)

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49
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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50
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

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51
Q

Fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease (CT disorder)

52
Q

Golden brown rings around peripheral cornea

A

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

53
Q

Gout, intellectual disability, self mutilating behavior in an boy

A

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

54
Q

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

A

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

55
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, ascetic necrosis of femoral head, bone crisis

A

Gaucherie disease (glucocerebrosidase deficiency)

56
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

57
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

58
Q

Hyperreflexia, hypertonic, babinski sign present

A

UMN damage

59
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

60
Q

Hypodermic, polycythemia, hypercapnia

A

Chronic bronchitis (hyperplasia of mucous cells, blue bloaters)

61
Q

Indurated, ulcerated genital lesion

A

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

62
Q

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

A

Patau syndrome (trisomy 13)

63
Q

Infant with hypoglycemia, hepatomegaly

A

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

64
Q

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

A

Edwards syndrome (trisomy 18)

65
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of the biliary tree)

66
Q

Large rash with bull’s eye appearance

A

Lyme disease: Borrelia

Erythema chronicum migrans from Ixodes tick bite

67
Q

Lucid interval after TBI

A

Epidural hematoma (middle meningeal artery rupture)

68
Q

Male child, recurrent infections, no mature BCs

A

Bruton disease (X-linked agammaglobulinemia)

69
Q

Mucosal bleeding and prolonged bleeding time

A

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

70
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

71
Q

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

A

Gardner syndrome (subtype of FAP)

72
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (lysosomal alpha-1,4, glucosidase deficiency)

73
Q

Neonate with arm paralysis following a difficult birth

A

Erb-Duchenne palsy (superior trunk (C5-C6) branchial plexus injury - “waiter’s tip”)

74
Q

No location postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

75
Q

Nystagmus, intention tremor, scanning speech, bilateral inter nuclear ophthalmoplegia

A

Multiple Sclerosis

76
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)

77
Q

Painful fingers/toes changing color from blue to white to red with cold or stress

A

Raynaud phenomenon (vasospasm in extremities)

78
Q

Painful, raised red lesions on pads and fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

79
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

80
Q

Painless jaundice

A

Cancer of pancreatic head obstructing bile duct

81
Q

Palpable purport on buttocks/legs, joint pain, abdominal pain (child), hematuria

A

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

82
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant mutation in MEN1/menin gene)

83
Q

Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

84
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (pink puffer, centriacinar - smoking; panacinar - alpha-1 antitrypsin deficiency)

85
Q

Polyuria, renal tubular acidosis type II, growth failure, electrolyte embalances, hypophosphatemic rickets

A

Fanconi syndrome (multiple combined dysfunction of proximal convoluted tubule)

86
Q

Pruruitic, purple, polygonal, planar papules and plaques

A

Lichen planus

87
Q

Ptosis, mitosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

88
Q

Pupil accommodates but does not react

A

Neurosyphilis (Argyll Robertson pupil)

89
Q

Rapidly progressive limb weakness that ascends following GI/URI

A

Guillan-Barre syndrome (acute inflammatory demyelination polyardiculopathy subtype)

90
Q

Rash on palms and soles

A

Coxsackievirus A, secondary syphilis, RMSF

91
Q

Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

A

Hyper IgE syndrome (Job syndrome0: neutrophil chemotaxis abnormality)

92
Q

Red currant jelly sputum in alcoholic or diabetic pts

A

Klebsiella pneumoniae pneumonia

93
Q

Red currant jelly stools

A

acute mesenteric ischemia (adults), intussusception (children)

94
Q

Red, itchy, swollen rash of nipple/areola

A

Pages disease of breast (sign of underlying neoplasm)

95
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

96
Q

bilateral RCC, hemangioblastomas, angiomatosis, pheochromocytoma

A

Von Hippel-Lindau disease (Dominant TS gene mutation)

97
Q

Resting tremor, rigidity, a kinesics, postural instability, shuffling gait

A

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

98
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

99
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

100
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

101
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

102
Q

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

A

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

103
Q

Single palmar crease

A

Down syndrome

104
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

105
Q

Skin hyperpigmentation, hypotension, fatigue

A

Primary adrenocortical insufficiency (eg Addison disease) causes increased ACTH, and alpha MSH production)

106
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (X-linked missense mutation in dystrophin, less severe than Duchenne)

107
Q

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

A

Koplik spots (measles/rubeola virus)

108
Q

Smooth, moist, painless, wart-like lesions on genitals

A

Condylomata lata (secondary syphilis)

109
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

110
Q

Strawberry tongue

A

Scarlet fever, Kawasaki disease

111
Q

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

Turner syndrome (45,XO)

112
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

113
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (vitC deficiency - cannot hydroxylate proline/lysine for collagen synthesis.

114
Q

Swollen, hard painful finger joints

A

Osteoarthritis (osteophytes on PIP - Bouchard nodes; DIP - Heberden nodes)

115
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic stenosis

116
Q

Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

A

Osler-Weber-Rendu syndrome

117
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN2A (AD RET mutations

118
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN2B (AD RET mutation)

119
Q

Toe extension/fan in upon plantar scrape

A

Babinski sign (UMN lesion)

120
Q

Unilateral facial drooping involving forehead

A

LMN facial nerve (CN VII) palsy,

UMN lesion spares forehead

121
Q

Urethritis, conjunctivitis, and arthritis

A

Reactivate arthritis associated with HLA-B27

122
Q

Vascular birthmark (port-wine stain) of the face

A

Nevus flammeus (benign but associated with Sturge-Weber syndrome)

123
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic pts)

124
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (tropheryma whipplei)

125
Q

Worst HA of my life

A

Subarachanoid hemorrhage

126
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

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