Classic Presentations Flashcards
(116 cards)
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (post hepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familia hypercholesterolemia (down LDL receptor signalling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
4
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan’s (fibrillin defect)
5
Q
Athlete with polycythemia
A
Erythropoietin injection
6
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease (vertebral TB)
7
Q
Bilateral hilar lymphadenopathy, uveitis
A
Sarcoidosis
8
Q
Blue sclera
A
OI (collagen defect)
9
Q
Bluish line on gingiva
A
Burton’s line (lead poisoning)
10
Q
Bone pain, bone enlargement, arthritis
A
Paget’s disease (up osteoblastic/osteoclastic activity)
11
Q
Bounding pulses, diastolic murmur, head bobbing
A
Aortic regurgitation
12
Q
Butterfly rash, Raynaud’s phenomenon in young woman
A
SLE
13
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type I (+pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+ bilateral acoustic neuromas)
14
Q
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
A
McCune-Albright syndrome (mosaic g-protein signaling mutation)
15
Q
Calf pseudohypertrophy
A
Musc dystrophy (usually Duchenne’s): X-linked recessive deletion of dystrophin gene
16
Q
Cherry red spot on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), cerebral retinal artery occlusion
17
Q
Chest pain on exertion
A
Angina (stable: moderate exertion; unstable: minima exertion)
18
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler’s 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 MD)
20
Q
Child with fever develops red rash on face that spreads to body
A
Erythema infectious; Parvovirus B19
21
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (Au-dom 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 ophthalmoplegia (damage to MLF; bilateral (MS), unilateral (stroke))
25
Continuous machinery heart murmur
PDA (close with indomethacin, open with misoprostol)
26
cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves' disease [periorbital])
27
Dark purple skin/mouth nodules
Kaposi's Sarcoma (AIDS, HHV-8)
28
Deep labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
29
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
30
Dilated cardiomyopathy, edema, polyneuropathy
Wet beriberi (thiamine [B1] deficiency)
31
Dog/cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation)
32
Dry eyes, dry mouth, arthritis
Sjorgren's syndrome (autoimmune destruciton of exocrine glands)
33
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (can go to esophageal SCC)
34
Elastic skin, joint hypermobility
Ehlers-Danlos syndrome (COL III defect)
35
Enlarged, hard left supraclavicular node
Virchow's node (abdominal met)
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, fertile
Acute cholelithiasis (bile duct blockage)
39
Fever, chills, headache, myalgia following antibiotic for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
40
Fever, cough, conjunctivitis, diffuse rash, Koplik
Measles (morbillivirus)
41
Fever, night sweats, weight loss
B symptoms (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 (genetic benign polyposis can cause bowel obstruction; up cancer risk)
46
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of COL IV)
48
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau's syndrome (adenocarcinoma of pancreas or lung)
49
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
50
Hyperreflexia, hypertonia, + babinski
UMN damage
51
Hypertension, hypokalemia, metabolic alkalosis
Conn's syndrome
52
Hyporeflexia, hypotonia, atrophy
LMN damage
53
Hypoxemia, polycythemia, hypercapnia
Blue boater (chronic bronchitis; hyperplasia of mucous cells)
54
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum)
| Painful, with exudate: chancroid (H. ducreyi)
55
Infant fails to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
56
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enzyme deficiency)
57
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards' syndrome (tri 18)
58
Keratin perals on skin biopsy
SCC
59
Large rash with bull's eye appearance
erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
60
Lucid interval after TBI
epidural hematoma (middle meningeal artery rupture)
61
Male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammaglobulinemia)
62
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
63
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (subtype of FAP)
64
Myopathy (infantile hypertrohpic cardiomyopathy), exercise intolerance
Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency)
65
Necrotizing vasculitis (lungs and necrotizing glomerulonephritis
Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies)
66
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior [C5-C6] brachial plexus injury: "waiter's tip")
67
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
68
Nystagmus, intention termor, scanning pseech, bilateral internuclear ophthalmoplegia
MS
69
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or up ICP)
70
painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
71
Painful, pale, cold fingers/toes
Raynaud's syndrome (vasospasm in extremities)
72
Painful, raised red lesions on palms and soles
Osler's node (infective endocarditis)
73
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis)
74
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
75
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child)
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
76
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dom)
77
Pink complexion, dyspnea, hyperventilation
pink puffer (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin deficiency)
78
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome (proximal tubular reabsorption defect)
79
Positive anterior "drawer sign"
ACL injury
80
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
81
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
82
Rapidly progressive leg weakness that ascends (following GI/URI)
Guillan Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
83
Rash on palms and soles
Coxsackie A, secondary syphilis, RMSF
84
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)
85
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
86
Red, itchy, swollen rash of nipple/areola
Paget's idsease of the breast (represents underlying neoplasm)
87
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
88
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
89
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
90
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
91
Severe jaundice in neonate
Crigler-najjar syndrome (congenital unconjugated hyperbilirubinemia)
92
Severe RLQ pain with rebound tenderness
McBurney's sign (appendicitis)
93
Short stature, up incidence of tumros/leukemia, aplastic anemia
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
94
Single palm crease
Simian crease (Down syndrome)
95
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
96
Skin hyperpigmentation
Addison's disease (primary adrenocortical insufficiency causes up ACTH and alpha-MSH production)
97
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's)
98
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
99
Smooth, flat, moist white lesions on genitals
Condylomata lata (secondary syphilis)
100
Splinter hemorrhages in fingernails
Bacterial endocarditis
101
Strawberry tongue
Scarlet fever ,Kawasaki disease, TSS
102
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth
Turner syndrome (45X, short stature, webbed neck, lymphedema)
103
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Scurvy (vit C déficience: can't hydroxylate proline/lysine for COL synthesis)
104
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
105
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
106
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
107
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
108
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
109
Unilateral facial drooping involving forehead
Bell's palsy (LMN CN VII palsy)
110
Urethritis, conjuctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
111
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
112
Vomiting blood following esophagogastric lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
113
"Waxy" casts with very low urine flow
Chronic end-stage renal disease
114
WBC casts in urine
Acute pyelonephritis
115
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whippelii)
116
Worst headache of my life
subarachnoid hemorrhage
