Classic Presentations Flashcards
1
Q
abdo pain, ascites, hepatomgaly
A
Budd-Chiari syndrome (post-hepatic venous thrombosis)
2
Q
abdo pain, diarrhea, leukocytosis, recent AB use
A
C diff infection
3
Q
achilles tendon xanthoma
A
familial hypercholesterolemia (DEC LDL receptor signaling)
4
Q
adrenal hemorrhage, hypoTN, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
5
Q
anaphylaxis following blood transfusion
A
IgA deficiency
6
Q
anterior “drawer sign” (+)
A
ACL injury
7
Q
arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
8
Q
athlete with polycythemia
A
secondary to erythropoietin injection
9
Q
back pain, fever, night sweats
A
Pott disease (vertebral TB)
10
Q
Bilateral acoustic schwannomas
A
Neurofibromatosis type 2
11
Q
bilat hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
12
Q
black eschar on face of patient with DKA
A
Mucor or Rhizopus fungal infection
13
Q
blue sclera
A
osteogenesis imperfecta (type 1 collagen defect)
14
Q
blueish line on gingiva
A
Burton line (lead poisoning)
15
Q
bone pain, bone enlargement, arthritis
A
Paget dz of bone (INC osteoblastic and osteoclastic activity)
16
Q
bounding pulses, diastolic heart murmur, head bobbing
A
aortic regurgitation (AR)
17
Q
“butterfly” facial rash and Raynaud phenomenon in a young female
A
SLE
18
Q
café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
A
NF type 1, pheochromocytoma, optic gliomas
19
Q
café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
20
Q
calf pseudohypertrophy
A
muscular dystrophy (mc: Duchenne, d/t X-linked recessive frameshift mutation of dystrophin gene)
21
Q
cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue
A
Kawasaki dz (tx w/ IVIG and ASA)
22
Q
“cherry-red spots” on macula
A
Tay-Sachs (ganglioside accumulation) -or- Niemann-Pick (sphingomyelin accumulation), ctl retinal artery occlusion
23
Q
CP on exertion
A
angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)
24
Q
CP; pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (a.i. mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)
25
CP with ST depression on EKG
unstable angina (troponins [-]) or NTSEMI (troponins [+]_
26
child uses arms to stand up from squat
Gowers sign (Duchenne MD)
27
child with fever later develops red rash on face that spreads to body
"slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)
28
chorea, dementia, caudate degeneration
Huntington disease (AD CAG repeat expansion)
29
chorioretinitis, hydrocephalus, intracranial calcifications
congenital toxoplasmosis
30
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle dz (skeletal muscle glycogen phosphorylase deficiency)
31
cold intolerance
hypothyroidism
32
conjugate horizontal gaze palsy, horizontal diplopia
internuclear ophthalmoplegia (INO)-damage to MLF; may be unilateral or bilateral
33
continuous "machine-like" murmur
PDA (close with indomethacin; open or maintain with PGE analogs)
34
cutaneous/dermal edema d/t connective tissue deposition
myxedema (caused by hypothyroidism, Graves dz [pretibial])
35
cutaneous flushing, diarrhea, bronschospasm
carcinoid syndrome (R-sided cardiac valvular lesions, INC 5-HIAA)
36
dark purple skin/mouth nodules in a pt with AIDS
Karposi sarcoma, assoc with HHV-8
37
deep, labored breathing/HYPER-ventilation
Kussmaul respiration (DKA)
38
dermatitis, dementia, diarrhea
pellagra (Niacin [vit B3] deficiency)
39
dilated cardiomyopathy, edema, alcoholism or malnutrition
wet beriberi (thiamine [vit B1] deficiency)
40
dog or cat bite resulting in infection
pasteurella multicoda (cellulitis at inoculation site)
41
dry eyes, dry mouth, arthritis
Sjögren syndrome (a.i. destruction of exocrine glands)
42
dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous carcinoma)
43
elastic skin, hypermobility of joints, INC bleeding tendency
Ehlers-Danlos syndrome (type 5 collagen defect, type 3 collagen defect seen in vascular subtype of ED)
44
enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
45
episodic vertigo, tinnitus, hearing loss
Meniere disease
46
erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)
47
facial muscle spasm upon TAPPING
Chvostek sign (hypocalcemia)
48
fat, female, forty, fertile
cholelithiasis (gallstones)
49
fever, cough, conjunctivitis, coryza, diffuse rash, koplik spots
measles
50
fever, night sweats, weight loss
B symptoms (staging) of lymphoma
51
fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (CTD)
52
golden brown rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson disease)
53
gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
54
hamartomatous GI polyps, HYPER-pigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; INC ca risk, mainly GI)
55
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
Gaucher dz (gluco-cerebro-side deficiency)
56
hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen 4)
57
HYPER-phagia, HYPER-sexuality, HYPER-orality, HYPER-docility
Klüver-Bucy syndrome (bilateral amygdala lesion)
58
HYPER-reflexia, HYPER-tonia, Babinski sign present
UMN damage
59
hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
60
hypoxemia, polycythemia, hypercapnia
"blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
61
indurated, ulcerated genital lesion
nonpainful: chancre (primary syphilis, Treponema pallidum)
| painful, with exudate: chancroid (Haemophilus ducreyi)
62
infant with "cherry-red" spot on macula, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingo-myelin-ase deficiency)
63
infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
64
infant with hypoglycemia and hepatomegaly
Cori dz (debranching enzyme deficiency) or Von Gierke disease (G6Pase deficency, more severe)
65
infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
66
jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
67
large rash wih bull's-eye appearance
erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
68
lucid interval after traumatic brain injury
epidural hematoma (MMA rupture)
69
male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
70
mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation d/t lack of Gp2b/3a)
71
muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
72
mulitple colon polyps, osteomas/soft tissue tumors, impacted.supernumerary teeth
Gardner syndrome (subtype of FAP)
73
myopathy (infantile HOCM), exercise intolerance
Pompe dz (lysosomal alpha-1,4-glucosidase deficiency)
74
neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip"
75
no lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
76
nystagmus, intention tremor, scanning speech, bilateral INO
MS
77
painful blue fingers/toes, hemolytic anemia
cold agglutinin dz (ai hemolytic anemia caused Mycoplasma pneumoniae, infectious mononucleosis, CLL)
78
painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud pheonomenon (vasospasm in extremities)
79
painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
80
painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
81
painless jaundice
cancer of the pancreatic head obstructing bile duct
82
palpable purpura on buttocks/legs, jt pain, abdo pain (child), hematuria
HSP (IgA vasculitis affecting skin and kidneys)
83
triple P tumors (pancreatic, pituitary, parathyroid)
MEN 1 (AD)
84
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
85
pink complexion, dyspnea, hyperventilation
"pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha-1 AT])
86
polyuria, RTA type 2, growth failure, electrolyte imbalances, hypo-phosphotemic rickets
Fanconi syndrome (multiple combined dysfunction of the PCT)
87
pruritic, purple, polygonal planar papules and plaques (6 Ps)
Lichen planus
88
ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
89
pupil accomodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
90
rapidly progressive limb weakness that ascends following GI/URTI
GB syndrome (acute inflamm demyelinating polyradiculopathy subtype)
91
rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
92
recurrent cold (non-inflamed) abscesses, unusual eczema, high serum IgE
HYPER-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
93
red "currant jelly" sputum in alcoholic or diabetic pt
klebsiella pneumo pneumonia
94
red itchy swollen rash of nipple/areola
Paget dz of the breast (sign of underlying neoplasm)
95
red "currant jelly" stools
acute mesenteric ischemia (adults) intussusception (children)
96
red urine in the morning, fragile RBCs
PNH
97
bilat RCC, hemangioblastomas, angiomatosis, pheochromocytoma
VHL dz (dominant tumor suppressor gene)
98
resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neurons in the SN pars compacta)
99
retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
100
severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated HYPER-bilirubinemia)
101
severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
102
severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
103
short stature, cafe au lait spots, thumb/radial defects, INC incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
104
single palmar crease
DS
105
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
106
skin HYPER-pigmentation, hypoTN, fatigue
primary, adrenocortical insufficiency (Addisons dz) causes INC ACTH and INC alpha-MSH production
107
slow, progressive muscle weakness in boys
Becker MD (X-linked missense mutation in dystrophin; less severe than Duchenne
108
small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
109
smooth, moist, painless, wart-like white lesions on genitals
condylomata lata (secondary syphilis)
110
splinter hemorrhages in fingernails
bacterial endocarditis
111
"strawberry tongue"
scarlet fever, Kawasaki disease
112
streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (XO)
113
sudden swollen/painful big toe joint, tophi
gout/podagra (hyperuricemia)
114
swollen gums, mucosal bleeding, poor wound healing, petechiae
scurvy (vit C deficiency: cant hydroxylate proline/lysine for collagen synthesis)
115
swollen, hard, painful finger joints
osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
116
systolic ejection murmur (crescendo-decrescendo)
aortic stenosis (AS)
117
telangiectasias, recurrent epistaxis, skin discoloration, AV malformation, GI bleeding, hematuria
Osler-Weber-Rendu syndrome
118
thyroid, parathyroid tuors, pheochromocytoma
MEN 2A (AD RET mut)
119
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (AD RET mut)
120
toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
121
unilateral facial drooping involving forehead
LMN facial nerve (CN 7) palsy; UMN lesions spare the forehead
122
urethritis, conjunctivitis, arthritis in a male
reactive arthritis associated with HLA-B27
123
vascular birthmark (port-wine stain) of the face
nevus flammeus (benign, but associated with Sturge-Weber syndrome)
124
vomiting blood following gastro-esophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
125
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
126
WHOML
SAH
