Classic Presentation Flashcards
1
Q
abdominal pain, ascites, hepatosplenomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
abdominal pain, diarrhea, leukocytosis, recent antibiotic use
A
C. Diff infection
3
Q
achilles tendon xanthoma
A
familial hypercholesterolemia (low LDL receptor signaling)
4
Q
adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
5
Q
anaphylaxis following blood transfusion
A
IgA deficiency
6
Q
anterior drawer sign
A
ACL tear
7
Q
arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
8
Q
athlete with polycythemia
A
EPO injection
9
Q
back pain, fever, night sweats
A
Pott disease (vertebral TB)
10
Q
bilateral acoustic schwannomas
A
neurofibromatosis type 2
11
Q
bilateral hilar adenopathy, uveitis
A
sarcoidosis (noncaseating granuloma)
12
Q
black eschar on face of patient is diabetic ketoacidosis
A
mucor or rhizopus fungal infections
13
Q
blue sclera
A
osteogenesis imperfecta (type 1 collagen defect)
14
Q
bluish line on gingiva
A
Burton line (lead poisoning)
15
Q
bone pain, bone enlargement, arthritis
A
Pagets disease of bone (increase osteoclast/blast activity)
16
Q
bounding pulses, wide pulse pressure, diastolic murmur, head bobbing
A
aortic regurgitation
17
Q
butterfly facial rash and Raynaud in young female
A
lupus
18
Q
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
19
Q
calf pseudophypertrophy
A
muscular dystrophy (usually Duchenne, due to X linked frameshift of dystrophin gene)
20
Q
cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
A
Kawasaki disease (treat with IVIG and aspirin)
21
Q
cherry red spots on macula
A
Tay-Sachs (ganglioside accumulation or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
22
Q
chest pain on exertion
A
angina (stable with moderate exertion, unstable is minimal)
23
Q
chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune mediated post MI fibrinous pericarditis, 2 weeks - months after acute episode)
24
Q
chest pain with ST depression on EKG
A
unstable angina without troponins or NSTEMI with troponins
25
child uses arms to stand up from squat
Duchenne muscular dystrophy (Gowers sign)
26
child with fever later develops red rash on face that spreads to body
erythema infectiosum/fifth disease ("slapped checks" appearance, parvovirus B19)
27
chorea, dementia, caudate degeneration
Huntingtons disease (autosomal dominant CAG repeats)
28
chorioretinitis, hydrocephalus, intracranial calcifications
congenital toxoplasmosis
29
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
30
cold intolerance
hypothyroidism
31
conjugate horizontal gaze palsy, horizontal diplopia
internuclear ophthalmoplegia (damage to MLF, may be unilateral or bilateral)
32
continuous machine like murmur
PDA (close with indomethacin, keep open with PGE analogs)
33
cutaneous/dermal edema due to connective tissue deposition
myxedema (caused by hypothyroidism, Graves disease)
34
cutaneous flushing, diarrhea, bronchospasm
carcinoid syndrome (right sided valvular lesions, increase in 5-HIAA)
35
dark purple skin/mouth nodules in AIDs patient
Kaposi sarcoma, associated with HHV-S
36
deep, labored breathing/hyperventilation
diabetic ketoacidosis (Kussmaul respirations)
37
dermatitis, dementia, diarrhea
pellagra (niacin deficiency)
38
dilated cardiomyopathy, edema, alcoholism or malnutrition
wet beriberi (thiamine deficiency)
39
dog or cat bite infection
pasteurella multocida (cellulitis at bite site)
40
dry eyes, dry mouth, arthritis
Sjogrens syndrome (autoimmune destruction of exocrine glands)
41
dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (can progress to squamous cell carcinoma)
42
elastic skin, hypermobility of joints, increase bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, type 3 in vascular subtype)
43
enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
44
episodic vertigo, tinnitus, hearing loss
Meniere disease
45
erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
mycosis fungoides (cutaneous T-cell lymphoma or Sezary syndrome (mycosis fungoides and malignant T cells in blood)
46
facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
47
fat, female, forty, fertile
cholelithiasis (gall stones)
48
fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin like release)
49
fever, cough, conjunctivitis, coryza, diffuse rash
measles
50
fever, night sweats, weight loss
B symptoms of lymphoma
51
fibrous plaques in soft tissue of penis with abnormal curvature
peyronie disease (connective tissue disorder)
52
golden brown rings around peripheral cornea
Wilson disease (Kayser-Fleischer rings due to copper accumulation)
53
gout, intellectual disability, self-mutilating behavior
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
54
hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands or genetalia
Peutz-Jeghers syndrome (inherited benign polyposis can cause bowel obstruction, increase in cancer risk)
55
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
Gauchers disease (glucocerebrosidase deficiency)
56
hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
57
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
58
hyperreflexia, hypertonia, Babinski sign present
UMN damage
59
hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
60
hypoxemia, polycythemia, hypercapnia
chronic bronchitis (hyperplasia of mucous cells, blue bloater)
61
indurated, ulcerated genital lesion
nonpainful: chancre (primary syphilis, treponema pallidum
painful, with exudate: chancroid (Haemophilus ducreyi)
62
infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
63
infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (G6Pase deficiency, more severe)
64
infant with microcephaly, rocker bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
65
jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
66
large rash with bull's eye appearance
erythema chronicum migrans from Ixodes tick (lyme disease: borrelia)
67
lucid interval after traumatic brain injury
epidural hematoma (middle meningeal artery rupture)
68
male, child, recurrent infections, no mature B cells
Brutons disease (X linked agammaglobulinemia)
69
mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
70
muffled heart sounds, distended neck veins, hyptotension
Becks triad of cardiac tamponade
71
multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumary teech
Gardner syndrome (subtype of FAP)
72
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
73
neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk (C5-C6) brachial plexus injury)
74
no lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
75
nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
multiple sclerosis
76
painful blue fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mono, CLL)
77
painful, raised red lesions on pads of fingers and toes
Osler nodes (infective endocarditis, immune complex deposition)
78
painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
79
painless jaundice
cancer of the pancreatic head obstructing bile duct)
80
palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
81
pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
82
periorbital or peripheral edema, proteinuria (3.5g/day), hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
83
pink complexion, dyspnea, hyperventilation
emphysema, pink puffer, centroacinar - smoker, panacinar - alpha 1 antitrypsin
84
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (combined dysfunction of PCT)
85
pruritic, purple, polygonal planar papules and plaques
lichen planus
86
ptosis, miosis, anhidrosis
Horners syndrome (sympathetic chain lesion)
87
pupil accommodates but doesn't react
neurosyphilis (Argyll Robertson pupil)
88
rapidly progressive limb weakness that ascents following GI infection
Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
89
rash on palms and soles
coxsackie A, secondary syphilis, Rocky Mountain spotted fever
90
recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
hyper IgE syndrome (Job syndrome, neutrophil chemotaxis abnormailty)
91
red currant jelly sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
92
red currant jelly stools
acute mesenteric ischemia (adults), intussusception (children)
93
red, itchy, swollen rash of nipple/areola
Paget disease of breast (sign of underlying neoplasm)
94
red urine in the morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
95
renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
96
resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson's disease (loss of dopaminergic neurons in substantia nigra pars compacta)
97
retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
98
severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
99
severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
100
severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
101
short stature, cafe au lait spots, thumb/radial defects, high incidence of tumors/leukemia, aplastic anemia
Fanconia anemia (loss of DNA crosslink repair, progresses to AML)
102
single palmar crease
Down syndrome
103
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
104
skin hyperpigmentation, hypotension, fatigue
primary adrenocortical insufficiency (Addisons disease causes increase ACTH and increase alpha-MSH production)
105
slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin, less severe than Duchennes)
106
small irregular red spots on buccal/lingual mucosa with blue/white centers
Koplik spots (measles virus)
107
smooth, moist, painless, wart-like white lesions on genitals
condylomata lata (secondary syphilis)
108
splinter hemorrhages in fingernails
bacterial endocarditis
109
strawberry tongue
Scarlet fever, Kawasaki disease
110
streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome
111
sudden swollen/painful big toe joint, tophi
gout/podagra (hyperuricemia)
112
swollen gums, mucosal bleeding, poor wound healing, petechiae
scurvy (vitamin C deficiency, cant hydroxylate proline/lysine for collagen synthesis)
113
swollen, hard, painful finger joints
osteoarthritis (osteophytes on PIP - Bouchard nodes, osteophytes on DIP - Heberden nodes_
114
systolic ejection murmur (crescendo-decrescendo)
aortic stenosis
115
telangiectasis, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia)
116
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation)
117
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
118
toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
119
unilateral facial drooping involving forehead
LMN facial nerve palsy, UPN spares the forehead
120
urethritis, conjunctivitis, arthritis in males
reactive arthritis associated with HLA B27
121
vascular birthmark (port-wine stain) of face
nevus flammeus (benign but associated with Sturge-Weber syndrome)
122
vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
123
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
124
worst headache of my life
subarachnoid hemorrhage
