2014 Classic Presentations Flashcards
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (decreased LDL receptor signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococemia)
4
Q
Anterior drawer sign +
A
Anterior cruciate ligament injury
5
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
6
Q
Athlete with polycythemia
A
Secondary to erythropoietin injection
7
Q
Back pain, fever, night sweats, weight loss
A
Pott disease (vertebral TB)
8
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
9
Q
Blue sclera
A
Osteogenesis imperfecta (type I collagen defect)
10
Q
Bluish line on gingiva
A
Burton line (lead poisoning)
11
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of bone (increased osteoblastic and osteoclastic activity)
12
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
13
Q
“Butterfly” facial rash and Raynoud phenomenon in a young female
A
Systemic lupus erythematosus
14
Q
Café-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type I (+pheochromocytoma, optic gliomas)
15
Q
Café-au-lait spots, polostotoic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
16
Q
Calf pseduohypertrophy
A
Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene
17
Q
“Cherry-red spots” on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphinomyelin accumulation), central retinal artery occlusion
18
Q
Chest pain with moderate exertion
A
Stable angina
19
Q
Chest pain with minimal (no) exertion
A
Unstable angina
20
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (AI-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
21
Q
Child uses arms to stand up from squat
A
Gowers sign (Duchenne muscular dystrophy)
22
Q
Child w/ fever later develops red rash on face that spreads to body
A
“Slapped cheeks” (erythema infectious/fifth disease: parvovirus B19_
23
Q
Chorea, dementia, caudate degeneration
A
Huntington disease (autosomal dominal CAG repeat expansion)
24
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle disease (muscle glycogen phosphorylase deficiency)
25
Cold intolerance
Hypothyroidism
26
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
27
Continuous "machine-like" heart murmur
PDA (close with indomethacin; open or maintain with misoprostol)
28
Cutaneous/derma edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
29
Dark purple skin/mouth nodules in a patient with AIDs
Kaposi sarcoma, associated with HHV-8
30
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
31
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
32
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet berberi (thiamine [vitamin B1]) deficiency
33
Dog or cat bite resulting in infection
Pasteruella multocida (cellulitis at inoculation site)
34
Dry eyes, dry mouth, arthritis
Sjogren syndrome (AI destruction of exocrine glands)
35
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
36
Elastic skin, hyper mobility of joins
Ehlers-Danlos syndrome (type III collagen defect)
37
Enlarged, hard, left supraclavicular node
Virchow node (abdominal metastasis)
38
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)
39
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
40
Fat, female, forty, and fertile
Cholethiasis (gallstones)
41
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
42
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
43
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
44
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder)
45
Gout, intellectual disability, self-mutiliating behavior in a boy
Lesch-Nyhan sydnroem (HGPRT deficiency, X-linked recessive)
46
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson disease)
47
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndroem (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
48
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
49
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndroem (mutation in type IV cllagen)
50
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
51
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
52
Hyporeflexia, hypotonia, atrophy, fasciculation
LMN damage
53
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
54
Non-painful, indurated, ulcerated genital lesion
Chancre (primary syphilis, T pallidum)
55
Painful, indurated, ulcerated genital lesion w/ exudate
Chancroid (Haemophilus ducreyi)
56
Infant w/ cleft lip/palate, microcephaly or holoproencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
57
Infant w/ failure to thrive, HSM, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
58
Infant w/ hypoglycemia, failure to thrive, and hepatomegaly
Cori disease (deb ranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
59
Infant with microcephaly, rocker-bottom feet, clenched hangs, & structural heart defect
Edwards syndrome (trisomy 18)
60
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
61
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
62
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
63
Male child, recurrent infxns, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
64
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GPIIb/IIIa
65
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
66
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
67
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
68
Neonate with arm paralysis following difficult birth
Erb-Ducheen palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
69
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
70
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
MS
71
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
72
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (AI hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
73
Painful, pale cold fingers/toes
Raynaud phenomenon (vasospasm in extremities)
74
Painful, raised red lesions on pad of fingers/toes
Osler nodes (infective endocarditits, immune complex deposition)
75
Painless, erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
76
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
77
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Scholonlein purpura (IgA vasculitis affecting skin and kidneys)
78
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
79
Periorbital and./or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic sydnroem
80
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin deficiency])
81
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (proximal tubular reabsorption defect)
82
Pruritic, purple, polygonal planar papules and plaques (6Ps)
Lichen planus
83
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
84
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
85
Rapidly progressive leg weakness that ascends following GI/URI
Guillain-Barré syndrome (acute AI inflammatory demyelinating polyneuropathy)
86
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
87
Recurrent colds, unusual eczema, high serum IgE
Hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
88
Red "currant jelly" sputum in alcholic or diabetic patietns
Klebsiella pneumoniae
89
Red "currant jelly" stools
Acute mesenteric ischemia (adults), intussusception (infants)
90
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
91
Red urine in the morning, fragile RBCCs
Paroxysmal nocturnal hemoglobinuria
92
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
93
Resting tremor, rigidity, akinesia, postural instability
Parkinson disease (nigrostriatal dopamine depletion)
94
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
95
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
96
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
97
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
98
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA cross link repair; often progresses to AML)
99
Single palmar crease
Down syndrome
100
Skin hyperpigmentation, hypotension, fatigue
Addison disease (primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production)
101
Slow, progressive muscle weakness in boys
Becker muscular dystophy (X-linked missense mutation in dystrophin; less severe than Duchnne)
102
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
103
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (secondary syphilis)
104
Splinter hemorrhages in fingernails
Bacterial endocarditis
105
"Strawberry tongue"
Scarlet fever, Kawasaki disease, toxic shock syndrome
106
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck lymphedema
Turner sydnroem (4,XO)
107
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
108
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysin for collagen synthesis)
109
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Herberden nodes])
110
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
111
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (AD ret mutation)
112
Thryoid tumors, pheochromocytoma, ganlionuromatosis
MEN2B (AD ret mutation)
113
Toe extension/fanning on plantar scrape
Babinski sign (UMN lesion)
114
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
115
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
116
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
117
Vomiting blood following GE lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
118
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
119
"Worst headache of my life"
Subarachnoid hemorrhage
