Classic Presentation Flashcards
(125 cards)
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
A
Clostridium difficile infection
3
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia ( 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 dislocation (upward), aortic dissection, hyperflexible joints
A
Marfan syndrome (Fibrillin defect)
8
Q
Athlete with polycythemia
A
2° to erythropoietin injection
9
Q
Back pain, fever, night sweats
A
Pott’s disease (vertebral TB)
10
Q
Bilateral acoustic schwannomas
A
Neuro fibromatosis type 2
11
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
12
Q
Black eschar on face of patient 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 ( osteoblastic and osteoclastic activity)
16
Q
Bounding pulses, wide pulse pressure, diastolic heart, head bobbing
A
Aortic regurgitation murmur, head bobbing
17
Q
“Butterfly” facial rash and Raynaud phenomenon in a young female
A
Systemic lupus erythematosus
18
Q
Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
A
Neurofibromatosis type I
19
Q
Café-au-lait spots (unilateral), polyostotic brous dysplasia, protein signaling precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G- mutation)
20
Q
Cervical lymphadenopathy, desquamating rash, coronary Kawasaki disease (treat with IVIG and aspirin) 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: with minimal exertion or at rest)
23
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)
24
Q
Chest pain with ST depressions on EKG
A
Unstable angina (⊝ troponins) or NSTEMI (⊕ 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/ fth disease (“slapped cheeks” appearance, caused by parvovirus B19)
27
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
28
Chorioretinitis, hydrocephalus, intracranial calci cations
Congenital toxoplasmosis
29
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase defciency)
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” heart 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 [pretibial])
34
Cutaneous ushing, diarrhea, bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions, 5-HIAA)
35
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
36
Deep, labored breathing/hyperventilation
Diabetic ketoacidosis (Kussmaul respirations)
37
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
38
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] de ciency)
39
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
40
Dry eyes, dry mouth, arthritis
Sjögren syndrome (autoimmune destruction of exocrine glands)
41
glands)
| Dysphagia (esophageal webs), glossitis, iron de ciency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
42
Elastic skin, hypermobility of joints, 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 Sézary syndrome (mycosis fungoides + malignant T cells in blood)
46
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
47
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
48
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer 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
Wilson disease (Kayser-Fleischer rings due to copper accumulation)
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; cancer risk, mainly GI)
55
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
Gaucher disease (glucocerebrosidase deficiency)
56
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
57
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Klüver-Bucy syndrome (bilateral amygdala lesion)
58
Hyperre exia, hypertonia, Babinski sign present
UMN damage
59
Hypore exia, hypotonia, atrophy, fasciculations
LMN damage
60
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hyperplasia of mucous cells, “blue bloater”)
61
Indurated, ulcerated genital lesion
Nonpainful: chancre (1° 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 de ciency) or Von Gierke disease (glucose-6-phosphatase de ciency, 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 bite (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
Bruton disease (X-linked agammaglobulinemia)
69
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
70
Muf ed heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
71
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
72
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
73
Neonate with arm paralysis following dif cult birth
Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury: “waiter’s tip”)
74
No lactation postpartum, absent menstruation, cold intolerance
```
intolerance
Sheehan syndrome (pituitary infarction)
```
75
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
76
Painful blue ngers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
77
Painful ngers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
78
Painful, raised red lesions on pads of ngers/toes
Osler nodes (infective endocarditis, immune complex deposition)
79
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/ microabscesses)
80
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
81
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)
82
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
83
Periorbital and/or peripheral edema, proteinuria (> 3.5g/day), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
84
Pink complexion, dyspnea, hyperventilation
Emphysema (“pink puffer,” centriacinar [smoking] or panacinar [α1-antitrypsin deficiency])
85
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
86
Pruritic, purple, polygonal planar papules and plaques (6 P’s)
Lichen planus
87
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
88
Pupil accommodates but doesn’t react
Neurosyphilis (Argyll Robertson pupil)
89
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barré syndrome (acute in ammatory demyelinating polyradiculopathy subtype)
90
Rash on palms and soles
Coxsackie A, 2° syphilis, Rocky Mountain spotted fever
91
Recurrent cold (nonin amed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
92
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
93
Red “currant jelly” stools
Acute mesenteric ischemia (adults), intussusception (children)
94
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
95
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
96
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
97
Resting tremor, rigidity, akinesia, postural instability, shuflfing gait
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
98
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
99
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
100
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
101
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
102
Short stature, café au lait spots, thumb/radial defects, incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
103
Single palmar crease
Down syndrome
104
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
105
Skin hyperpigmentation, hypotension, fatigue
1° adrenocortical insuf ciency (eg, Addison disease) causes ACTH and α-MSH production)
106
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
107
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles [rubeola] virus)
108
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata (2° syphilis)
109
Splinter hemorrhages in ngernails
Bacterial endocarditis
110
“Strawberry tongue”
Scarlet fever, Kawasaki disease
111
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45,XO)
112
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
113
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
114
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
115
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
116
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome
117
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
118
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation)
119
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
120
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
121
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
122
Vascular birthmark (port-wine stain) of the face
Nevus ammeus (benign, but associated with Sturge-Weber syndrome)
123
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
124
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
125
“Worst headache of my life”
Subarachnoid hemorrhage
