Classic Presentations Flashcards
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
post-hepatic venous obstructions
2
Q
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
A
Clostridium difficile infection
3
Q
Achilles tendone xanthoma
A
Familial hypercholesterolemia (decreased 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
Anterior cruciate ligament injury
7
Q
Arachnodactyly, lens discoloration, 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
bilateral hilar adenopathy, uveitis
A
sarcoidosis (noncaseating granulomas)
12
Q
black eschar on face of patient with diabetes 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, increasing hat size, hearing loss, lion-like facies, isolated elevated alkaline phosphatase
A
Paget disease of bone (increased osteoblastic and osteoclastic activity)
16
Q
Bounding pulses (wide pulse pressure), diastolic heart murmur, head bobbing, large LV stroke volume, (heard in aortic Area , Sitting up and Listening with the bell of stethoscope)
A
Aortic regurgitation
17
Q
“butterfly” facial rash and Raynauds phenomenon in a young female
A
SLE
18
Q
cafe au lait spots (unilateral), polyostic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
19
Q
cafe au lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
A
neurofibromatosis type I, pheochromocytoma, optic gliomas
20
Q
Calf pseudohypertrophy
A
muscular dystrophy (most common Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
21
Q
fever, cervical lymphadenopathy, desquamating red rash, coronary aneurysms, myocarditis, red conjunctivae and tongue
A
Kawasaki disease (treat with IVIG and aspirin)
22
Q
“cherry red spots” on macula
A
Tay sachs (ganglioside accumulation) or Neimann-Pick (sphingomyelin accumulation), central retinal artery occlusion
23
Q
Chest pain on exertion
A
angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)
24
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)
25
Chest pain with ST depression on EKG
unstable angina (troponins -) or NSTEMI (troponins +)
26
child uses arms to stand up from squat
Gowers sign (Duchenne muscular dystrophy)
27
chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
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 opthalmoplegia (damage to MLF; may be unilateral or bilateral)
32
continuous "machine like" murmur
PDA (close with indomethacin; open or maintain PGE analogs)
33
cutaneous/derm edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, graves disease [pretibial])
34
cutaneous flushing, diarrhea, bronchospasm
carcinoid syndrome (right sided cardiac valvular lesions, increased 5-HIAA
35
dark purple skin/mouth nodules in a patient with AIDS
kaposi sarcoma, associated with HHV-8
36
deep. labored breathing/hyperventilation
Kussmal respirations (diabetic ketoacidosis)
37
dermatitis, dementia, diarrhea
pellagra (niacin [vitamin B3] deficiency)
38
dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine {vitamin B1] deficiency)
39
dog or cat bite resulting in infection
pasteurella multocida (cellulitis at inoculation site)
40
dry eyes, dry mouth, arthritis
sjogren syndrome (autoimmune destruction of exocrine glands)
41
dysphagia (esphageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
42
elastic skin, hypermobility of joints, increased bleeding tendency
ehlers danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
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 + malignant T cells in blood)
46
facial muscle spasm upon tapping
chvostek sign (hypocalcemia)
47
fat, female, forty, fertile
cholelithiasis (gallstones)
48
fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-herxherimer reaction (rapid lysis of spirochetes results in endotoxin release)
49
fever, cough, conjunctivitis, coryza, diffuse rash
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 (connective tissue disorder)
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, hyperpigmentation of mouth/feet/hands/genitalia
peutz-jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
55
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
gaucher disease (glucocerebrosidase deficiency)
56
hereditary nephritis, senssorineural hearing loss, cataracts
alport syndrome (mutation in collagen IV)
57
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
58
hyperrelexia, hypertonia, babinski sign present
UMN damage
59
hyporeflexia, hypertonia, 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 exudateL chancroid (haemophilus ducreyi)
62
infant with "cherry red" spot on macula, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
63
infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisome 13)
64
infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, 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 with bull's eye appearance
erythema chronicum migrans from ixodes tick bite (lyme disease: Borrelia)
68
lucid interval after traumatic brain injury
epidural hematoma (middle meningeal artery 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 due to lack of GpIIb/IIIa)
71
muffled heart sounds, distended neck veins, hypotension
beck triad of cardiac tamponade
72
multiple colon polyps osteomas/soft tissue tumors, impacted/supernumerary teeth
gardner syndrome (subtype of FAP)
73
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (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
Sheehand syndrome (pituitary infarction)
76
mystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
multiple sclerosis
77
painful blue fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma pneumoniae, infectious mononucleosis, CLL)
78
painful fingers/toes changing color from blue to white to red with cold stress
raynaud phenomenon (vasospasm in extremities)
79
painful, raised red lesions on pads of fingers/toes
olser 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, joint pain, abdominal pain (child), hematuria
henoch schonlein purpura (IgA vasculitis affecting skin and kidneys)
83
pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
84
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
85
pink complexion, dyspnea, hyperventilation
pink puffer (emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin deficiency])
86
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
87
pruritic, purple, polygonal planar papules and plaques (6 P's)
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/ upper respiratory infection
guillain-bare syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
91
rash on palms and soles
coxsackie A, secondary syphilis, rocky mountain spotted fever
92
recurrent cold (noninflamed) bscesses, unusual eczema, high serum IgE
hyper-IgE syndrome (job syndrome: neutrophil chemotaxis abnormality)
93
red "currant jelly" sputum in alcoholic or diabetic patient
klebsiella pneumoniae pneumonia
94
red "currant jelly" stools
acute mesenteric ischemia (adults), intussusception (children)
95
red, itchy, swollen rash of nipple/areola
paget disease of the breast (sign of underlying neoplasm)
96
red urine in the morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
97
renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutaiton)
98
resting tremor, rigidity, akinesia, postural instability, shuffling gait
parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
99
retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
100
severe jaundice in neonate
Crigler-Nijjar syndrome (congential unconjugated hyperbilirubinemia)
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, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
104
single palmar crease
down syndrome
105
situs inversus, chronic sinusitis, bronchiectasis,infertility
Kartagener syndrome (dyenein arm defect affecting cilia)
106
skin hyperpigmentation, hypotension, fatigue
primary adrenocortical insufficiency (ex. Addison disease) causes increased ACTH and increased alpha-MSH production)
107
slow, progressive muscle weakness in boys
Beckler muscular dystrophy (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, congential heart disease, horseshoe kidney, cystic hydroma at borth, short stature, webbed neck, lymphedema
Turner syndrome (45, XO)
113
sudden swollen/painful big tow joint, tophi
gout/podagra (hyperuricemia)
114
swollen gums, mucosal bleeding, poor wound healing, petechiae
scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
115
swollen hard, painful finger joint
osteoarthritis (osteophytes on PIP [bouchards nodes], DIP [Heberden nodes])
116
systolic ejection murmur (crescendo-decrescendo)
aortic stenosis
117
telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Oslr0weber-rendu syndrome
118
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
119
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutaiton)
120
toe extension/fanning upon plantar scrape
babinski sign (UMN lesion)
121
unilateral facial drooping involving forehead
LMN facial nerve (CN VII) 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 gastroesophageal lacerations
Mallory-weiss syndrome (alcoholic and bulimic patients)
125
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (tropheryma whipplei)
126
"worst headache of my life"
subarachnoid hemorrhage
127
1) asteroid bodies within giant cells
| 2) Schaumann bodies (calcium and protein inclusions) within giant cells
sarcoidosis (noncaseating granulomas)
