Classic Presentations Flashcards
1
Q
Ab pain, ascites, hepatomegaly
A
Budd Chiari Syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
IIa familial hypercholesterolemia (lo LDLR)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friedrichsen syndrome (meningococcemia)
4
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
5
Q
Athlete with polycythemia
A
EPO injections
6
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease
7
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (nc granulomas)
8
Q
Blue sclera
A
Osteogenesis imperfecta (type I collagen)
9
Q
Bluish line on gingiva
A
Burton’s line (Pb poisoning)
10
Q
Bone pain, bone enlargement, arthritis
A
Paget’s disease of bone
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
aortic regurgitation
12
Q
butterfly facial rash, Raynaud’s phenomenon in a young female
A
SLE
13
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
NF-1 (+pheo, optic gliomas)
NF-2 (+bilateral acoustic neuromas)
14
Q
Cafe-au-lait spots, polyostic fibrous dysplasia, precocious puberty
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
15
Q
Calf pseudohypertrophy
A
Muscular dystrophy (DMD most often)
DMD: X linked deletion of dystrophin gene
16
Q
Cherry red spot on macula
A
Tay-Sachs (ganglioside accum)
Niemann-Pick (sphingomyelin accum)
central retinal artery occlusion
17
Q
Chest pain only on exertion
A
Stable angina
18
Q
Chest pain, pericardial effusion/friction rub, persistent fever post-MI
A
Dressler syndrome (Ab vs pericardium, usually >4 weeks)
19
Q
Child uses arms to stand up from squat/sitting
A
Gower’s sign (DMD)
20
Q
Child with fever develops red rash on face that spreads to body
A
Slapped cheek fever (aka fifth dz; Parvovirus B19)
21
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (AD, CAG repeat)
22
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s disease (muscle glycogen phosphorylase deficient)
23
Q
Cold intolerance
A
Hypothyroidism
24
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear ophthalmoplegia (MLF dmg: bilateral= MS, unilateral= stroke)
25
Continuous machine like murmur
PDA
Indomethacin=closes
Misoprostol (PGE1)= keeps open
26
Dermal edema due to CT deposition
Myxedema (hypothyroid, Grave's: pretibial)
27
Dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS pts, assoc with HHV-8)
28
Deep, labored breathing/hyperventilation
Kussmaul breathing (DKA)
29
Dermatitis, dementia, diarrhea
Pellagra (niacin/B3 def)
30
Dilated cardiomyopathy, edema, polyneuropathy
Wet beriberi (thiamine/B1 def)
31
Dog/cat bite infection
Pasteurella multocida (cellulitis @ site)
32
Dry eyes, dry mouth, arthritis
Sjogren syndrome
autoimmune destruction of exocrine glands
33
Dysphagia (esoph webs), glossitis, microcytic anemia
Plummer Vinson syndrome
| Fe deficient, may become Sq Cell CA
34
Elastic skin, hypermobile joints
Ehlers-Danlos syndrome (type III collagen)
35
Enlarged, hard supraclavicular node
Virchow's node (ab mets)
36
Erythroderma, LAD, HSM, atypical T cells
Sezary syndrome (cutaneous T cell lymphoma)
or Mycosis fungoides
37
Facial muscle spasm upon tapping
Chovstek's sign (hypoCa)
38
Fat, fourty, female, and fertile
Risks for acute cholelithiasis (bile duct block)
39
Fever, chills, headache, myalgia after antibiotic tx for Syphilis
Jarisch-Herxheimer rxn (toxin release from spirochetes)
40
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
41
Fever, night sweats, weight loss
B symptoms (lymphoma)
42
Fibrous plaques in soft tissue of penis
Peyronie's disease (CT disorder)
43
Gout, MR, self-mutilating behavior in boy
Lesch-Nyhan syndrome
| HGPRT def, X linked recessive
44
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings
Cu accum in Wilson's
45
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome
| genetic benign polyposis can cause bowel obstruction, incr cancer risk
46
HSM, osteoporosis, neurologic symptoms
Gaucher's disease
| glucocerebrosidase def
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome
| a-chain mutation in type IV collagen
48
Hypercoagulability, migrating DVTs and vasculitis
Trousseau's syndrome
adenocarcinoma of pancreas or lung
49
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome
| bilateral amygdala lesion
50
Hyperreflexia, hypertonia, + Babinski
upper motor neuron dmg
51
HTN, hypoK, metabolic alkalosis
Conn's syndrome
52
Hyporeflexia, hypotonia, atrophy
lower motor neuron dmg
53
Hypoxemia, polycythemia, hypercapnia
blue bloater (chronic bronchitis; hyperplastic mucus cells)
54
Indurated, ulcerated genital lesion
Nonpainful: chancre (syphilis, T. pallidum)
Painful with exudate: chancroid (H. ducreyi)
55
Infant with failure to thrive, HSM, neurodegeneration
Niemann-Pick dz
| genetic sphingomyelinase deficiency
56
Infant with hypoglycemia, failure to thrive, hepatomegaly
Cori's disease
| debranching enzyme deficiency
57
Infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defect
Edward's syndrome (trisomy 18)
58
Keratin pearls on a skin biopsy
Squamous cell CA
59
Bull's eye rash
erythema chronicum migrans
from Ixodes tick (Lyme)
60
Lucid interval after TBI
Epidural hematoma (usually MMA rupture)
61
Male child with recurrent infections, no mature B cells
Bruton's X linked agammaglobinemia
62
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia
| lack GP IIb/IIIa
63
Multiple colon polyps, osteomas/soft tissue tumors, impacted/many teeth
Gardner's syndrome
| type of FAP
64
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease
| lysosomal a-1,4-glucosidase deficiency
65
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
Wegener's granulomatosis (c-ANCA +)
or Goodpasture's (anti-collagen IV in GBM)
66
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy
| C5-C6, waiter's tip
67
No lactation post-partem, amenorrhea, cold intolerance
Sheehan syndrome (pituitary infarct)
68
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
MS
69
oscillating slow/fast breathing
Cheyne-Stokes respirations
| central apnea in CHF or hi ICP
70
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease
| autoimmune from Myco pnemo, infectious mono
71
Painful, pale, cold digits
Raynaud's syndrome (vasospasm)
72
Painful, raised red lesions on palms and soles
Osler's nodes (infective endocarditis)
73
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis)
74
Painless jaundice
cancer of pancreatic head blocking bile duct
75
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child)
Henoch-Schonlein purpura
| IgA vasculitis, skin+kidneys
76
Pancreatic, pituitary, parathyroid tumors
MEN I (AD)
77
Pink complexion, dyspnea, hyperventilation
Pink puffer (EMPHYSEMA: centroacinar=smoking, panacinar=A1A)
78
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome (PCT resorption defect)
79
+ anterior drawer sign
ACL tear
80
Ptosis, miosis, anhidrosis
Horner's syndrome
| symp chain lesion
81
Pupil accomodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
aka Prostitute's pupil
82
Rapidly progressing ascending leg weakness (following GI/URT infection)
Guillain-Barre syndrome
| demyelinating, molecular mimicry
83
Rash on palms and soles
Coxsackie A, 2 syphilis, RMSF
84
Recurrent colds, unusual eczema, hi serum IgE
hyper IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormal)
85
Currant jelly sputum in alcoholic or diabetic
Klebsiella pneumoniae
86
Red, itchy, swollen rash of nipples/areolae
Paget's dz of breast (underlying neoplasm)
87
Red urine in MORNING, fragile RBCs
paroxysmal nocturnal hemoglobinuria
| due to physiologic resp acidosis @ night
88
Bilateral renal cell CA, hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease
| dominant tumor suppressor gene mutation
89
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease
| nigrostriatal DA depletion
90
Retinal hemorrhage with pale centers
Roth spots (infective endocarditis)
91
Severe jaundice in neonate
Crigler-Najjar
| defect or absent UDP-GT; hi UCB
92
Severe RLQ pain with rebound tenderness
McBurney's sign (appendicitis)
93
Short, hi incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia
| genetic loss of DNA crosslink repair, often moves to AML
94
Single palm crease
simian crease (trisomy 21)
95
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome
| dynein arm defect affecting cilia
96
Skin hyperpigmentation
Addison's disease
| primary adrenal insufficiency, hi POMC
97
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy (X linked, missense of dystrophin)
98
Small, irregular red spots on buccal/lingual mucosa with blue/white centers
Koplik spots (measles; rubeola virus)
99
Smooth, flat, moist white lesions on genitals
Condylomata lata (2 syphilis)
100
Splinter hemorrhages in fingernails
bacterial endocarditis
101
Strawberry tongue
scarlet fever, Kawasaki dz, toxic shock syndrome
102
Streak ovaries, congenital heart dz, horseshoe kidney, cystic hygroma @ birth
Turner syndrome
| 45 XO, short, web neck, broad chest
103
Sudden swollen/painful big toe, typhi
gout/podagra (hyperuricemia)
104
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Scurvy (vitC deficient, can't hydroxylate pro or lys)
105
Swollen, hard, painful finger joints
Osteoarthritis
| PIP: Bouchard's, DIP: Heberden's
106
Systolic ejection murmur (crescendo-decrescendo)
aortic stenosis
107
Thyroid, parathyroid, pheochromocytoma tumors
MEN 2A
| AD; ret mutation
108
Thyroid, pheo, ganglioneuromatosis
MEN 2B
| AD; ret mutation
109
Toe extension/fannion upon plantar scrape
+ Babinski sign (UMN lesion)
110
Unilateral facial drooping involving forehead
Bell's palsy (LMN CN VII palsy)
111
Urethritis, conjunctivitis, arthritis in male
reactive arthritis associated with HLA-B27
112
Vascular birthmark (port-wine stain)
Hemangioma (benign, but assoc with Sturge Weber syndrome)
113
Vomiting blood following esophagogastric lacerations
Mallory Weiss syndrome (alcoholic and bulemics)
114
Waxy casts with very low urine flow
chronic end-stage renal disease
115
WBC cast in urine
acute pyelonephritis
116
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whippelii)
117
Worst headache of my life
subarachnoid hemorrhage
118
Unilateral facial drooping involving forehead
Bell's palsy (LMN CN VII palsy)
119
Urethritis, conjunctivitis, arthritis in male
reactive arthritis associated with HLA-B27
120
Vascular birthmark (port-wine stain)
Hemangioma (benign, but assoc with Sturge Weber syndrome)
121
Vomiting blood following esophagogastric lacerations
Mallory Weiss syndrome (alcoholic and bulemics)
122
Waxy casts with very low urine flow
chronic end-stage renal disease
123
WBC cast in urine
acute pyelonephritis
124
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whippelii)
125
Worst headache of my life
subarachnoid hemorrhage
