Classic Presentations Flashcards
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (decreased LDL receptor signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friedrichsen syndrome (meningococcemia)
4
Q
Anterior drawer sign
A
ACL injury
5
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
6
Q
Athlete with polycythemia
A
EPO injection
7
Q
Back pain, fever, night sweats, weight loss
A
Pott disease (vertebral TB)
8
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
9
Q
Blue sclera
A
Osteogenesis imperfecta (type I collagen defect)
10
Q
Bluish line on gingiva
A
Burton line (lead poisoning)
11
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of bone (increased osteoblastic and osteoclastic activity)
12
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
13
Q
Butterfly facial rash and Raynaud phenomenon in a young female
A
SLE
14
Q
Cafe au lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type I (also look for pheochromocytoma, optic glioma)
15
Q
Cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
16
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene
17
Q
Cherry red spots on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
18
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
19
Q
Child uses arms to stand up from squat
A
Gowers sign (Duchenne muscular dystrophy)
20
Q
Child with fever later develops red rash on face that spreads to body
A
“Slapped cheeks” (erythema infectiosum, fifth disease, parvovirus B19)
21
Q
Chorea, dementia, caudate degeneration
A
Huntington disease (autosomal dominant CAG repeat expansion)
22
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle disease (muscle glycogen phosphorylase deficiency)
23
Q
Cold intolerance
A
Hypothyroidism
24
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear ophthalmoplegia (damage to MLF; bilateral = multiple sclerosis, unilateral = stroke)
25
Continuous "machine-like" heart murmur
PDA (close with indomethacin, open or maintain with misoprostol)
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, think Graves disease if pretibial)
27
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
28
Deep, labored breathing/hyperventilation
Kussmaul respirations (DKA)
29
Dermatitis, dementia, diarrhea
Pellagra (B3/niacin deficiency)
30
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (B1/thiamine deficiency)
31
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
32
Dry eyes, dry mouth, arthritis
Sjogren's syndrome (autoimmune destruction of exocrine glands)
33
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
34
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
35
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
36
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
37
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
38
Fat, female, forty, and fertile
Cholelithiasis
39
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
40
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
41
Fever, night sweats, weight loss
B symptoms (important in staging of lymphoma)
42
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder)
43
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
44
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson disease)
45
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
46
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
48
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
49
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
50
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
51
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
52
Indurated, ulcerated genital lesion
Nonpainful = chancre (primary syphilis, Treponema pallidum); Painful with exudate = chancroid (Haemophilus ducreyi)
53
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
54
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
55
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori disease (debranching enzyme defiency) or Von Gierke disease (glucose-6-phosphatase deficiency - more severe)
56
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
57
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
58
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia burgdorferi)
59
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
60
Male child, recurrent infections, no mature B cells
Bruton's agammaglobulinemia (X-linked)
61
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
62
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
63
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
64
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
65
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: waiter's tip)
66
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
67
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
68
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased ICP)
69
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
70
Painful, pale, cold fingers/toes
Raynaud phenomenon (vasospasm in extremities)
71
Painful, raised, red lesions on pad of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
72
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
73
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
74
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
75
Pancreatic, pituitary, parathyroid tumors
MEN I (autosomal dominant)
76
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
77
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha-1-antitrypsin deficiency])
78
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (proximal tubular reabsorption defect)
79
Pruritic, purple, polygonal planar papules and plaques (6 P's)
Lichen planus
80
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
81
Pupil accommodates but doesn't react
Argyll-Robertson pupil (neurosyphilis)
82
Rapidly progressive leg weakness that ascends following GI or upper respiratory infection
Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
83
Rash on palms and soles
Coxsackie A, secondary syphilis, or Rocky Mountain spotted fever
84
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
85
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
86
Red "currant jelly" stools
Acute mesenteric ischemia (adults), intussusception (infants)
87
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
88
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
89
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
90
Resting tremor, rigidity, akinesia, postural instability
Parkinson disease (nigrostriatal dopamine depletion)
91
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
92
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
93
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
94
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
95
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
96
Single palmar crease
Down syndrome
97
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
98
Skin hyperpigmentation, hypotension, fatigue
Addison disease (primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production)
99
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
100
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
101
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (secondary syphilis)
102
Splinter hemorrhages in fingernails
Bacterial endocarditis
103
Strawberry tongue
Scarlet fever, Kawasaki disease, toxic shock syndrome
104
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45 XO)
105
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
106
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
107
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
108
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
109
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
110
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
111
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
112
Unilateral facial drooping involving forehead
Facial nerve palsy (LMN)
113
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
114
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
115
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
116
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
117
Worst headache of my life
Subarachnoid hemorrhage
