Classic presentations Flashcards
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (from decr LCL receptor signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
4
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joines
A
Marfans (fibrillin defect)
5
Q
Athlete w/ polycythemia
A
Doping! (secondary to epo injection)
6
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease (vertebral Tb)
7
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
8
Q
Blue sclera
A
OI (type 1 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 of bone (increased osteoblastic and osteoclastic activity)
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurg
12
Q
Malar (butterfly) facial rash and Raynaud’s phenomenon in a young woman
A
SLE
13
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type 1 (+ pheochromocytoma, optic gliomas)
14
Q
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
15
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly DMD); X-linked recessive deletion of the dystrophin gene
16
Q
Cherry-red spots on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation); central retinal artery occlusion
17
Q
Chest pain on exertion
A
Stable angina
18
Q
Chest pain with very minimal exertion or at rest
A
Unstable angina
19
Q
Chest pain, pericardial efftuion/friction rub, persistent fever all following MI (>1 wk)
A
Dressler’s syndrome (AI-medited post-MI fibrinous pericarditis, tends to happen 1-12 weeks post-MI)
20
Q
Child uses arms to stand up from squat.
A
Gower’s sign (Duchenne MD)
21
Q
Child with fever later develops red rash on face that spreads to body
A
“Slapped cheeks” (erythema infectious/fifth disease: parvovirus B19)
22
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (AD CAG repeat expansion (TNR))
23
Q
Chronic exercise intolerance w/ myalgia, fatiguem painful cramps, myoglobulinuria
A
McArdle’s disease (muscle glycogen phosphorylase deficiency)
24
Q
Cold intolerance
A
Hypothyroidism
25
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
26
Continuous machinery heart murmur
PDA (close with indomethacin; keep open with PGE2)
27
Cutaneous/dermal edema due to CT deposition
Myxedema (caused by hypothyroidism, Grave's disease [pretibial])
28
Dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS patients [MSM]; assoc w/ HHV-8)
29
Deep, labored breathing/hyperventilation
Kussmaul breathing (DKA)
30
Dermatitis, dementia, diarrhea
Pellagra (niacin/B3 deficiency)
31
Dilated cardiomyopathy, edema, alcoholism, or malnutrition
Wet beriberi (thiamine/B1 deficiency)
32
Dog or cat bite resulting in infection
Pasturella multocida (cellulitis at inoculation site)
33
Dry eyes, dry mouth, arthritis
Sjogrens syndrome (AI disease of exocrine glands)
34
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress--> esophageal squamous cell carcinoma)
35
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type 3 collagen defect)
36
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
37
Erythroderma, lymphadonopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
38
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
39
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
40
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
41
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
42
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
43
Fibrous plaques in soft tissue of penis
Peyronies disease (CT disorder)
44
Gout, mental retardation, selt-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
45
Green yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
46
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jegher's syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
47
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
48
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation of alpha chain of collagen IV)
49
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
50
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
51
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
52
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
53
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum)
| Painful, with exudate: chancroid (Haemophilus ducreyi)
54
Infant w/ cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau's syndrome (trisomy 13)
55
Infant w/ failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
56
Infant w/ hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enz deficiency)
57
Infant w/ microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
58
Jaundice, palpable distended non-tender gallbladder
Courvoisier's sign (distal obstruction of biliary tree)
59
Large rash w/ bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
60
Lucid interval after traumatic brain injury
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
Muffled heart sounds, distended neck veins, hypotension
Beck's triad of cardiac tamponade
64
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (subtype of FAP)
65
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease (lysosomal alpha-1,4 glucosidase deficiency)
66
Neonate w/ arm paralysis following a difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: waiter's tip)
67
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
68
Nystagmus, intention tremor, slurring speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
69
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or incr intracranial P)
70
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (AI hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
71
Painful, pale, cold fingers/toes
Raynaud's phenomenon (vasospasm in extremities)
72
Painful, raised red lesions on pad of fingers/toes
Osler's nodes (infective endocarditis, immune complex deposition)
73
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
74
Painless jaundice
Cancer of the pancreatic head obstructing the bile duct
75
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
76
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
77
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
78
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin deficiency])
79
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi's syndrome (proximal tubular reabsorption defect)
80
Positive anterior "drawer sign"
ACL injury
81
Pruritic, purple, polygonal planar papules and plaques (6 P's)
Lichen planus
82
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
82
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
83
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
84
Rapidly progressive leg weakness that ascends following GI/URI
Guillian Barre syndrome (acute AI inflammatory demyelinating polyneuropathy)
85
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky mountain spotted fever
86
Recurrent colds, unusual eczema, high serum IgE
Hyper IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)
87
Red current jelly sputum in alcoholics or diabetics
Klebsiella pneumoniae
88
Red current jelly stools
Acute mesenteric ischemia (adults), intussusception (infants)
89
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
90
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
91
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
Von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
92
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
93
Retinal hemorrhages w/ pale centers
Roth's spots (bacterial endocarditis)
94
Severe jaundice in neonates
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
95
Severe RLQ pain with palpation of LLQ
Rovsing's sign (acute appendicitis)
96
Severe RLQ pain with rebound tenderness
McBurney's sign (appendicitis)
97
Short stature, incr incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
98
Situs inversus, chronic sinusitism bronchiectasis, infertility
Kartagener's syndrome (dyenin arm defect affecting cilia)
99
Situs inversus, chronic sinusitism bronchiectasis, infertility
Addison's disease (primary adrenocortical insufficiency causes incr ACTH and incr alpha-MSH production)
100
Skin hyperpigmentation, hypotension, fatigue
Addison's disease (primary adrenocortical insufficiency causes incr ACTH and incr alpha-MSH production)
101
Slow, progressive muscle weakness in boys
Becker's MD (X-linked missense mutation in dystrophin; less severe than DMD)
102
Small, irregular red spots on buccal/lingual mucosa w/ blue-white centers
Koplik spots (measles; rubeola virus)
103
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (secondary syphilis)
104
Splinter hemorrhages in fingernails
Bacterial endocarditis
105
Strawberry tongue
Scarlet fever, Kawasaki disease, toxic shock syndrome
106
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45, XO)
107
Sudden swollen/painful big toe joint, tophi
Cout/podagra (hyperuricemia)
108
Swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurvy (vitamin C deficiency; can't hydroxylate pro/lys for collagen synth)
109
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
110
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
111
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (AD ret mutation)
112
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (AD ret mutation)
113
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
114
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
115
Urethitis, conjunctivitis, arthritis in a male
Reactive arthritis assoc w/ HLA-B27
116
Vascular birthmark (port-wine stain)
Hemangioma (benign, but assoc w/ Sturge-Weber syndrome)
117
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
118
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whipplei)
119
"Worst headache of my life"
Subarachnoid hemorrhage
