Rapid Review: 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 signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friederichsen syndrome (meningococcemia)
4
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
5
Q
Athlete with polycythemia
A
Secondary to erythropoietin injection
6
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease (vertebral tuberculosis)
7
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
8
Q
Blue sclera
A
Osteogenesis imperfecta (type I collagen defect)
9
Q
Bluish line on gingiva
A
Burton’s line (lead poisoning)
10
Q
Bone pain, bone enlargement, arthritis
A
Paget’s disease of bone (increased osteoblastic and osteoclastic activity)
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
aortic regurgitation
12
Q
Butterfly facial rash and Raynaud’s phenomenon in a young female
A
SLE
13
Q
Cafe-au-lait spots, Lische nodules (iris hamartoma)
A
NF1 (+ pheochromocytoma, optic gliomas)
14
Q
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty; multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
15
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene
16
Q
Cherry-red spot on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
17
Q
Chest pain on exertion
A
Angina (stable: with moderate exertion; unstable: with minimal exertion)
18
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
19
Q
Child uses arms to stand up from squat
A
Gower’s sign (Duchenne’s muscular dystrophy)
20
Q
Child with fever later develops red rash on face that spreads to body
A
Slapped checks (erythema infectiosum/fifth disease: parvovirus B19)
21
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (autosomal dominant CAG repeat expansion)
22
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s disease (muscle glycogen phosphorylase deficiency)
23
Q
Cold intolerance
A
Hypothyroidism
24
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear opthalmoplegia (damage to MLF; bilateral –> multiple sclerosis, unilateral –> stroke)
25
Continuous machinery heart murmur
PDA (close with indomethicin; open or maintain with misoprostol)
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves' disease [pretibial])
27
Dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS presents [MSM]: associated with HHV-8)
28
Deep, labored breathing/hyperventilation
Kussmaul breathing (DKA)
29
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
30
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
31
Dog or cat bite resulting in infection
Pasturella multocida (cellulitis at inoculation site)
32
Dry eyes, dry mouth, arthritis
Sjogren's syndrome (autoimmune destruction of exocrine glands)
33
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
34
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
35
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
36
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
37
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
38
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
39
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch0Herzheimer reaction (rapid lysis of spirochetes results in toxin release)
40
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
41
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
42
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
43
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyan syndrome (HGPRT deficiency, X-linked recessive)
44
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
45
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
46
Hepatosplenomegaly, osteroporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of collagen IV)
48
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome
49
Hyporeflexia, polycythemia, hypercapnia
Blue bloater (chronic bronchitis: hyperplasia of mucous cells)
50
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum); painful with exudate: chanchroid (Haemophilus ducreyi)
51
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau's syndrome (trisomy 13)
52
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
53
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enzyme deficiency)
54
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward's syndrome (trisomy 18)
55
Jaundice, palpable distended non-tender gallbladder
Courvoisier's sign (distal obstruction of biliary tree)
56
Large rash with bull's eye appearance
Erythema chronicum migrams from Ixodes tick bite (Lyme disease: Borrelia)
57
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
58
Male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammaglobulinemia)
59
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
60
Muffled heart sounds, distended neck veins, hypotension
Beck's triad of cardiac tamponade
61
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (subtype of FAP)
62
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease (lysosomal alpha- 1,4-glucosidase deficiency)
63
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: waiter's tip)
64
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
65
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
MS
66
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
67
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma pneumoniae, infectious mononucleosis)
68
Painful, pale, cold fingers/toes
Raynaud's phenomenon (vasospasm in extremities)
69
Painful, raised red lesions on pad of fingers/toes
Osler's node (infective endocarditis, immune complex deposition)
70
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
71
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
72
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
73
Pancreatic, pituitary, parathyroid tumors
MEN1 (autosomal dominant)
74
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
75
Pink complexion, dyspnea, hyperventilation
Pink puffer (emphysema: centriacinar [smoking], panacinar [alpha-1 antitrypsin deficiency])
76
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi's syndrome (proximal tubular reabsorption defect)
77
Positive anterior drawer sign
Anterior cruciate ligament injury
78
Pruritic, purple, polygonal planar papules and plaques (6 Ps)
Lichen planus
79
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
80
Pupil accomodates but doesn't react
Argyll-Robertson pupil (neurosyphilis)
81
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
82
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
83
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)
84
Red currant jelly sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
85
Red currant jelly stools
Acute mesenteric ischemia (adults), intussusception (infants)
86
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
87
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
88
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
89
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
90
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
91
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
92
Severe RLQ pain with rebound tenderness
McBurney's sign (appendicitis)
93
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
94
Single palmar crease
Simian crease (Down syndrome)
95
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
96
Skin hyperpigmentation, hypotension, fatigue
Addison's disase (primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production
97
Slow, progessive muscle weakness in boys
Becker's muscle dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's)
98
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
99
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (secondary syphilis)
100
Splinter hemorrhages in fingernails
Bacterial endocarditis
101
Strawberry tongue
Scarlet fever, Kawasaki disease, toxic shock syndrome
102
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45,XO)
103
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
104
Swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
105
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
106
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
107
Thyroid and parathyroid tumors, pheochromocytoma
MEN2A (autosomal dominant ret mutation)
108
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN2B (autosomal dominant ret mutation)
109
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
110
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
111
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
112
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Stuge-Weber syndrome)
113
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
114
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whipplei)
115
Worst headache of my life
Subarachnoid hemorrhage
