Classic Presentations Flashcards
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome
2
Q
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
A
C. diff infection
3
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (decreased LDL receptor signaling)
4
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderischsen 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 dislocation (upward), aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
8
Q
Athlete with polycythemia
A
Secondary to EPO injection
9
Q
Back pain, fever, night sweats
A
Pott disease (vertebral TB)
10
Q
Bilateral acoustic schwannomas
A
NF 2
11
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
12
Q
Black eschar on face of pt with diabetic ketoacidosis
A
Mucor or Rhizopus fungal infection
13
Q
Blue sclera
A
Osteogenesis imperfecta (type I collagen defect)
14
Q
Bluish line on gingiva
A
Burton line (lead poisoning)
15
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of bone
16
Q
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
A
Aortic regurgitation
17
Q
“Butterfly” facial rash and Raynaud syndrome in a young female
A
SLE
18
Q
Cafe au lait spots, Lisch modules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
A
NF1
19
Q
Cafe-au-lait spot (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
20
Q
Calf pseudohypertropy
A
Muscular dystrophy
21
Q
Cervical LAD, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
A
Kawasaki disease
22
Q
“Cherry-red” spots on macula
A
Tay-Sachs or Niemann Pick, central retinal artery occlusion
23
Q
Chest pain on exertion
A
Angina
24
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis 2wk -> several months after acute episode)
25
Chest pain with ST depression on EKG
Unstable angina (- tropinins) or NSTEMI (+ troponins)
26
Child uses arms to stand up from squat
Gowers sign- Duchenne muscular dystrophy
27
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/ 5th disease - parvo B19
28
Chorea, dementia, caudate degeneration
Huntington disease
29
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
30
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle Disease (skeletal muscle glycogen phosphorylase deficiency)
31
Cold intolerance
Hypothyroidism
32
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (damage to MLF; may be uni- or bilateral
33
Continuous "machine-like" heart murmur
PDA
34
Cutaneous/dermal edema due to connective tissue deposition
Myexedema (caused by hypothyroidism, Graves disease [pretibial])
35
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (r-sided cardiac vavular lesions, increased 5-HIAA)
36
Dark purple skin/mouth nodules in pt with AIDS
Kaposi sarcoma (assc. w/ HHV-8)
37
Deep, labored breathing/ hyperventilation
DKA (Kussmaul respiration)
38
Dermatitis, dementia, diarrhea
Pellagra (B3 (niacin) deficiency)
39
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (B1 deficiency)
40
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
41
Dry eyes, dry mouth, arthritis
Sjogren Syndrome
42
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer Vinson Syndrome
43
Elastic skin, hypermobility of joints, increased bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, type III defect in vascular subtype)
44
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
45
Episodic vertigo, tinnitus, hearing loss
Meniere disease
46
Erythroderma, LAD, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sezary 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, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)
50
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
51
Fever, night sweats, weight loss
B symptoms of lymphoma
52
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease
53
Golden brown rings around peripheral cornea
Wilson disease (Kayser-Fleischer rings due to Cu accumulation)
54
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
55
Hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands, genitalia
Peutz-Jeghers syndrome
56
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
Gaucher disease (glucocerebrosidase deficiency)
57
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
58
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome
59
Hyperreflexia, hypertonia, Babinski sign
UMN damage
60
Hyporeflexia, hypotonia, atrophy, fasiculations
LMN damage
61
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis
62
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis); Painful, with exudate: chancroid (Haemophilus ducreyi)
63
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau sundrome (trisomy 13)
64
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphatase deficiency, more severe
65
Infant wit microcephaly, rocker-bottom feet, clenched hands, and structural heart defects
Edwards syndrome (trisomy 18)
66
Jaundice, palpable distended, non-tender gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
67
Large rash with bull's eye appearance
Erythema chronicum migrans from Ixodes tixk bite (Lyme disease: borrelia)
68
Lucid interval after TBI
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
Glanzmnn 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/sub\ernumerary 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
Sheehan syndrome (pituitary infarction)
76
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
Multiple sclerosis
77
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mononucleosis, CLL)
78
Painful fingers/toes changing color from white to blue to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
79
Painful, raised 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/microabsesses)
81
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
82
Palpable pupura 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 (auto dominant)
84
Periorbital and/or peripheral edema, proteinuria (>3.5g/d), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
85
Pink complexion, dyspnea, hyperventilation
Emphysema
86
Polyuria, renal tubular acidosis type II, growth failure electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome
87
Pruritic, purple, polygonal planar papules and plaques
Lichen planus
88
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
89
Pupil accommodates but doesn't react
Argyll Robertson pupil- neurosyphilis
90
Rapidly progessive limb weakness that ascends following GI/ upper respiratory infection
Guillain-Barre syndrome
91
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
92
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper IgE syndrome (Job syndrome; neutrophil chemotaxis abnormality)
93
Red "currant jelly" sputum in alcoholic or diabetic pts
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
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 mutation)
98
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of DA neurons in the substantia nigra pars compacta)
99
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
100
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
101
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
102
Severe RLQ pain with deep 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 (dynein arm defect affecting cilia)
106
Skin hyperpigmentation, hypotension, fatigure
Primary adrenocortical insufficiency (eg Addison disease) causes increased ACTH and increased alpha-MSH
107
Slow progressive muscle weakness in boys
Becker 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])
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 hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45 XO)
113
Sudden swollen/painful big toe joint, tophi
Gout/ podagra (hyperuricemia)
114
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy
115
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
116
Systolic ejection murmur, crescendo-decrescendo
Aortic stenosis
117
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia)
118
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A
119
Thyroid tumor, pheochromocytomas, ganglioneuromatosis
MEN 2B
120
Toe extension/ fanning upon plantar scrape
Babinski sign (UMN lesion)
121
Unilateral face drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
122
Urethritis, conjuctivitis, arthritis in males
Reactive arthritis assc with HLA-B27
123
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but assc. w/ Struge-Weber syndrome)
124
Vomiting blood following gastroesophageal laceration
Mallory Weiss syndrome (alcoholic and bulimic patients)
125
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease
126
"Worst headache of my life"
Subarachnoid hemorrhage
