Classic Presentations Flashcards
(117 cards)
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari (posthepatic venous thrombosis)
2
Q
Achilles Tendon Xanthoma
A
Familial Hypercholesterolemia (decreased LDL receptor signaling)
3
Q
Adrenal hemorrhage, DIC, hypotension
A
Waterhouse-Friderichson (meningococcemia)
4
Q
Positive Anterior Drawer Sign
A
ACL tear
5
Q
Arachnodactyly (long fingers), aortic dissection, hyperflexible joints, LENS DISLOCATION
A
Marfan’s Syndrome (fibrillin defect)
6
Q
Athlete with polycythemia vera
A
2/2 EPO injection
7
Q
Back pain, fever, night sweats, weight loss
A
Pott’s Disease (vertebral TB)
8
Q
Bilateral hilar lymphadenopathy, uveitis
A
Sarcoidosis (non-caseating granuloma)
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’s disease of the 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
NF1 (+pheochromocytoma, optic glioma)
15
Q
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocoius puberty, multiple endocrine abnormalitites
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
16
Q
Calf pseudohypertrophy
A
Duchenne muscular dystrophy (x-linked recessive deletion of dystrophin gene)
17
Q
“Cherry-red spots” on macula (3)
A
Tay-Sachs (ganglioside accumulation
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion
18
Q
Chest pain on exertion
A
Angina (stable: w/ moderate exertion, unstable: w/ minimal exertion)
19
Q
Chest pain, pericardial effusinon/friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
20
Q
Child uses arms to stand up from squat
A
Gower Sign (DMDystrophy)
21
Q
Child with fever later develops rash on face that spreads to body
A
“slapped cheeks” (erythema infectiosum/fifth disease: PARVOVIRUS B19)
22
Q
chorea, dementia, caudate degeneration
A
Huntington disease (AD, CAG expansion)
23
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle 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 "machine-like" murmur
PDA (close with indomethacin; open with misoprostol)
27
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
28
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
29
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
30
Dermatitis, dementia, diarrhea
Pellagra (niacin B3 def.)
31
Dilated cardiomyopathy, edema, alcoholism, or malnutrition
Wet beriberi (thiamine B1 def.)
32
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
33
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
34
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell CA
35
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
36
Enlarged, hard left supraclavicular node
Virchow Node (abdominal metastasis)
37
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungiodes + malig. T-cells spilling into blood)
38
Facial Muscle spasm upon tapping, what causes this
Chvosktek sign (hypocalcemia)
39
Fat, female, forty, fertile
Cholelithiasis (gallstones)
40
Fever, chills, headache, myalgia following antibiotic treatment for syphillis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
41
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
42
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
43
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder)
44
Gout, intellectual disability, self-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 in Wilson's disease)
46
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inhereted, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
47
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebroside def.)
48
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (collagen IV mut.)
49
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-bucy syndrome (bilateral amygdala lesion)
50
Hyperreflexia, hypertonia, babinski sign present
UMN lesion
51
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN lesion
52
Hypoxemia, polycythemia, hypercapnia
"blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
53
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis/treponema pallidum)
Painful: chancroid/Haemophilus ducreyi
54
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
55
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase def.)
56
Infant with failure to thrive, hypoglycemia, hepatomegaly
Cori disease (debranching enzyme def.)
Von Gierke disease (glucose-6-phosphatase def., more severe)
57
Infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defect
Edwards syndrome (trisomy 18)
58
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
59
Large rash with 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 X-linked agammaglobulinemia
62
Mucosal Bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa
63
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
64
multiple colonic polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (FAP subtype)
65
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
66
neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury: "watier's tip")
67
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
68
nystagmus, intention tremor, scannning speech, bilateral internuclear ophthalmoplegia
Multiple Sclerosis
69
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased ICP)
70
painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia cuased by Mycoplasma pneumoniae, infectious mononucleosis)
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/microabcesses)
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 (AD)
76
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
77
Pink complexion, dyspnea, hyperventilation
"pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin def])
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
Lichen planus
80
ptosis, miosis, anhidrosis
horner syndrome (sympathetic chain lesion)
81
pupil accommodates but doesn't react
argyll roberston pupil (neurosyphilis)
82
rapidly progressive leg weakness that ascends following GI/Upper Resp. infection
Guillain-Barre syndrome (acute autoinflammatory demyelinating polyneuropathy)
83
rash on palms and soles
Coxsackie A, rocky mt. spotted fever, secondary syphilis
84
recurrent colds, unusual eczema, high serum IgE
Job's hyper-IgE syndrome (neutrophil chemotaxis def.)
85
Alcoholic or diabetic with currant jelly sputum
Klebsiella Pneumoniae
86
Red "currant jelly" stools
acute mesenteric ischemia (adults), intussusception (infants)
87
Red, itchy, swollen rash of ripple/areola
paget disease of the breast (sign of underlying neoplasm)
88
red urine in the morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
89
RCC (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) [type 1 is full lack of enzyme]
93
severe RLQ pain with palpation of LLQ
Severe RLQ pain with rebound tenderness
rovsing sign (acute appendicitis)
McBurney sign (acute appendicitis)
94
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
95
Single palmar crease
Down Syndrome
96
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
97
Skin hyperpigmentation, hypotension, fatigue
Addision disease (primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production)
98
Slow progressive muscle weakness in boys
Becker muscular dystrophy (X-linked misssense mutation in dystrophin; less severe than Duchenne)
99
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
100
Smooth flat moist painless white lesions on genitals
Condylomata lata (secondary syphilis)
101
Splinter hemorrhages in fingernails
Bacterial endocarditis
102
"Strawberry tongue"
Scarlet fever, Kawasaki disease, toxic shock syndrome
103
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner 45XO
104
Sudden swollen/painful big toe, tophi
Gout/podagra (hyperuricemia)
105
Swollen gums, mucosal bleeding, poor wound healing, petechiae
scurvy (vit C def.: can't hydroxylate proline/lysine for collagen synthesis)
106
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [bouchard nodes], DIP [heberden nodes])
107
Systolic Ejection murmur
Aortic stenosis
108
Thyroid and parathyroid tumors, pheochromocytoma
MEN2A (AD ret mut.)
109
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN2B (AD ret mut.)
110
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
111
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
112
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis assoc. w/ HLA-B27
113
vascular birthmark (port-wine stain)
Hemangioma (benign, assoc. w/ Sturge-Weber syndrome)
114
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic/bulimic)
115
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (tropheryma whipplei)
116
"worst headache of my life"
subarachnoid hemorrhage
117
vertical diplopia (double vision when walking down stairs)
trochlear nerve (IV) lesion
