Classic Presentations Flashcards
1
Q
Abdominal pain, ascites, hepatosplenomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (low LDLR signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC (disseminated intravascular coagulation)
A
Waterhouse-Friderichsen syndrome (meningococemia)
4
Q
Arachnodactyly (slender fingers), lens dislocation, aortic dissection, hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
5
Q
Athlete with polycythemia
A
Secondary to erythropoietin injection
6
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease (vertebral tuberculosis)
7
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
8
Q
Blue sclera
A
Osteogenesis imperfecta (type 1 collagen defect)
9
Q
Bluish line of gingiva
A
Burton’s line (lead poisoning)
10
Q
Bone pain, bone enlargement, arthritis
A
Paget’s disease of bone (increased osteoblastic and osteoclastic activity)
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
12
Q
Butterfly facial rash and Raynaud’s in a young female
A
SLE
13
Q
Café au Lait spots and Licsh nodules (iris hamartoma)
A
Neurofibromatosis type I (+pheochromocytoma, optic gliomas)
14
Q
Café au Lait spots, polyostotic fibrous dysplasia, percocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
15
Q
Calf pseudohypertrophy
A
Muscular dystrophy (usually Duchenne’s); X-linked recessive deletion of the dystrophin gene
16
Q
“Cherry-red spot” on macula
A
Tay-Sachs (ganglioside accumulation)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion
17
Q
Chest pain on exertion
A
Angina (stable if with moderate exertion, unstable if with minimal exertion)
18
Q
Chest pain, pericardial effusion/friction rub, persistant fever following MI
A
Dressler’s syndrome–autoimmune-mediated post-MI fibrinous pericarditis, 1-12 wk after acute episode)
19
Q
Child using arms to stand up from squat
A
Gowers’ sign–Duchenne musclar dystrophy
20
Q
Child with fever later develops red rash on face that spreads to the body
A
“Slapped cheeks” (erythema infectiosum; fifth disease: parvovirus B19)
21
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (autosomal dominant CAG repeat expansion)
22
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s disease (muscle glycogen phosphorylase deficiency)
23
Q
Cold intolerance
A
Hypothyroidism
24
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear opthalmoplegia (damage to MLF; bilateral with multiple sclerosis and unilateral with stroke)
25
Continuous 'machinery' heart murmur
PDA (close with indomethacin, open with misoprostol (PGE)
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Grave's disease (pretibial))
27
Dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS patients, associated with HHV-8)
28
Deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
29
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
30
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
31
Dog or cat bite resulting in an 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, hypermotility of joints
Ehlers-Danlos syndrome (type III collagen defect)
35
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
36
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
37
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
38
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
39
Fever, chills, headache, myalgia following antibiotic tx for syphilis
Jarisch-Herxheimer reaction (rapid loss of spirochetes resulting in toxin release)
40
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
41
Fever, night sweats, weigh loss
B symptoms (staging) of lymphoma
42
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
43
Gout, mental retardation, 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's 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's disease (glucocerebrosidase deficiency)
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of collagen IV)
48
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
49
Hyperreflexia, hypertonia, Babinski sign
UMN damage
50
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
51
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia or mucous cells)
52
Indurated, ulcerated genital lesion
- Nonpainful
- Painful
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's 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's disease (debranching enzyme deficiency
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's sign (distal obstruction of biliary tree)
58
Large rash with bull's eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
59
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
60
Male child, recurrent infections, no mature B cells
Bruton's disease (X linked agammaglobulinemia)
61
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
62
Muffled heart sounds, distended neck veins, hypotension
Beck's triad of cardiac tamponade
63
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (subtype of FAP)
64
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's 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's syndrome (pituitary infarction)
67
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
Multiple sclerosis
68
Oscillating slow/fast breathing
Cheyne-Strokes respirations (central apnea in CHF or increased intracranial pressure)
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's phenomenon (vasospasm in extremities)
71
Painful, raised red lesions on the pads of fingers and toes
Osler's node (infective endocarditis, immune complex deposition)
72
Painful, erythematous lesions on the palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
73
Palpable purpura on the buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting the skin and kidneys)
74
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
75
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
76
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin deficiency)
77
Poyuria, renal tubular acidosis type II, growth failure, electrolyte abnormalities, hypophosphatemic rickets
Fanconi's syndrome (proximal tubular reabsorption defect)
78
Positive anterior drawer sign
ACL tear
79
Pruritic, purple, polygonal planar papular and plaques (6 Ps)
Lichen planus
80
Ptosis, miosis, anhydrosis
Horner's syndrome (sympathetic chain lesion)
81
Pupil accommodates but does not react
Argyll Robertson pupil (neurosypilis)
82
Rapidly progressive leg weakness that ascends following GI/URT infection
Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polynephropathy)
83
Rash on palms and soles
Coxsackie A
Secondary syphilis
Rocky mountain spotted fever
84
Recurrent colds, unusual eczema, high serum IgE
Hyper IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)
85
Red "current jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
86
Red "current jelly" stools
Acute mesenteric ischemia (adults)
| Intussusception (infants)
87
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents an underlying neoplasm)
88
Red urine in the morning, fragile RBSs
Paroxysmal nocturnal hemoglobinuria
89
Bilateral renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel Lindau disease (dominant tumor supressor gene mutation)
90
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
91
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
92
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
93
Severe RLQ pain with palpation of LLQ
Rovsing's sign (acute appendicitis)
94
Severe RLQ pain with rebound tenderness
McBurney's sign (appendicitis)
95
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
96
SIngle palmar crease
Simian crease (Down syndrome)
97
Situs inversus, chronic sinusitis, bronciectasis, infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
98
Skin hyperpigmentation, hypotension, fatigue
Addison's disease (primary adrenal insufficiency causing high ACTH and increased alpha MSH production)
99
Slow, progressive muscle weakness in boys
Becker's muscle dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's)
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, spots on skin
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
107
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
108
Systolic ejection murmur (crescendo-decrescendo)
Aortic 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 the forehead
Facial nerve (LMN CN VII) palsy
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's disease (Tropheryma whipplei)
117
"Worst headache of my life"
Subarachnoid hemorrhage
