Classic Presentations Rapid Review Flashcards
(118 cards)
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 (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 syndrome
6
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease (vertebral TB)
7
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granuloma)
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, Lisch nodules (iris hamartoma)
A
NFT-I (+pheochromocytoma, optic gliomas)
14
Q
Cafe’-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, MEN
A
McCune-Albright syndrome (mosaic G protein signaling mutation)
15
Q
Calf pseduohypertrophy
A
DMD: X-linked recessive deletion of the 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, 1-2 weeks after acute episode)
19
Q
Child uses arms to stand up from squat
A
Gowers sign (DMD)
20
Q
Child with fever later develops red rash on face that spreads to body
A
Slapped cheeks of erythema infectiosum/fifth disease; agent is 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 ophthalmoplegia (damage to MLF; bilateral [MS], unilateral [stroke])
25
Continuous machinery" heart murmur"
PDA (close with indomethacin; open or maintain with misoprostol)
26
Cutaneous dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves' disease)
27
Dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS patients [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
Pasteurella 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 the joints
Ehlers-Danlos syndrome (type III collagen defect)
35
Enlarged, hard left supraclavicular node
Virchow's node (abdominal mets)
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, fertile
Cholelithiasis
39
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
40
Fever, cough, conjunctivitis, coryza, diffuse rash, koplik spots
Measles (Morbillivirus)
41
Fever, night sweats, weight loss
B symptoms 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 the peripheral cornea
Kayser-Fleisher rings-- copper accumulation from Wilson's disease
45
Hamartomatous polyps, hyperpigmentation of the mouth, feet, and hands
Peutz-Jeghers syndrome
Inherited benign polyposis can cause bowel obstruction; increased cancer risk; mainly GI cancer
46
Hepatosplenomegaly, osteoperosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport's syndrome (mutation in the alpha chain of collagen type IV)
48
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
49
Hyperreflexia, hypertonia, Babinski's sign present
UMN damage
50
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
51
Hypoxemia, polycythemia, hypercapnia
Blue bloater (chronic bronchitis-- hyperplasia of mucous cells)
52
Indurated, ulcerated genital lesion
Nonpainful: chancre of primary syphilis caused by treponema pallidum
Painful with exudate: chancroid caused by Haemophilus ducreyi
53
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau's syndrome (trisomy 13)
54
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
55
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enzyme deficiency)
56
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward's syndrome (trisomy 18)
57
Jaundice, palpable distended non-tender gallbladder
Courvoisier's sign (distal obstruction of the biliary tree)
58
Large rash with bull's eye appearance
Erythema chronicum migrans from Ixodes tick bite
Lyme disease caused by Borrelia burgdorferi
59
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
60
Male child, recurrent infections, no mature B cells
Bruton's disease (X linked agammaglobulinemia)
61
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GPIIb/IIIa)
62
Muffled heart sounds, distended neck veins, hypotension
Beck's triad of cardiac tamponade
63
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardners syndrome (subtype of FAP)
64
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency)
65
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk, C5-C6, brachial plexus injury); waiter's tip" injury"
66
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
67
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
MS
68
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
69
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia cuased by M. pneumoniae or infectious mono)
70
Painful, pale, cold fingers/toes
Raynaud's phenomenon (vasospasm of extremities)
71
Painful, raised red lesions on pad of fingers/toes
Osler's node (infective endocarditis, immune complex deposition)
72
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
73
Painless jaundice
Cancer of the pancreatic head obstructing the common bile duct; increased Alk phos and GGT
74
Palpable purpura on the buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
75
Pancreatic, pituitary, parathyroid tumors
MEN 1 syndrome (AD disorder)
76
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
77
Pink complexion, dyspnea, hyperventilation
Pink Puffer"
78
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi's syndrome (proximal tubular reabsorption defect)
79
Positive anterior drawer sign""
ACL injury
80
Pruritic, purple, polygonal papules and plaques
Lichen planus
81
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
82
Pupil accomodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
83
Rapidly progressive leg weakness that ascends following GI/upper respiratory tract infection
Guillain-Barre syndrome--acute autoimmune inflammatory demyelinating polyneuropathy
84
Rash on palms and soles
Cosxackie A, secondary syphilis, RMSF
85
Recurrent colds, unusual eczema, high serum IgE
Hyper IgE syndrome -- Job's syndrome causing a defect in neutrophil chemotaxis
86
Red currant jelly sputum in alcoholics or diabetic patients
Klebsiella pneumonia
87
Red currant jelly stools
Acute mesenteric ischemia (adults) or intussusception (infants)
88
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast--represents underlying neoplasm
89
Red urine in the morning, fragile RBC's
Paroxysmal nocturnal hemoglobinuria
90
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
91
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease- nigrostriatal dopamine depletion
92
Retinal hemorrhages with pale centers
Roth's spots- bacterial endocarditis
93
Severe jaundice in the neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
94
Severe RLQ pain with palpation of the LLQ
Rovsing's sign (acute appendicitis)
95
Severe RLQ pain with rebound tenderness
McBurney's sign--appendicitis
96
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia; genetic loss of DNA crosslink repair; often progresses to AML
97
Single palmar crease
Simian crease characteristic of Down's syndrome
98
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome- dynein arm defect affecting cilia
99
Skin hyperpigmentation, hypotension, fatigue
Addison's disease-- primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production
100
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy: X linked recessive mutation in dystrophin; less severe than Duchenne's
101
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
102
Smooth, flat, moist, painless white lesions on the genitals
Condyloma lata (secondary syphilis)
103
Splinter hemorrhages in fingernails
Bacterial endocarditis
104
Strawberry tongue
Scarlet fever, Kawasaki disease, toxic shock syndrome
105
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45XO)
106
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
107
Swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurvy-- vitamin C deficiency; can't hydroxylate proline/lysine for collagen synthesis
108
Swollen, hard, painful finger joints
Osteoarthritis-- osteophytes on PIP (Bouchard's nodes), DIP (Heberden's nodes)
109
Crescendo-decrescendo systolic ejection murmur
Aortic valve stenosis
110
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
111
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
112
Toe extension/fanning upon plantar scrape
Babinski sign (UMN)
113
Unilateral facial drooping involving forehead
Facial nerve-- LMN CN VII palsy
114
Urethritis, conjunctivitis, arthritis in males
Reactive arthritis associated with HLA-B27 linked conditions; Reiter's syndrome (can't see, pee, or bend the knee)
115
Vascular birthmark (port-wine stain)
Hemangioma- benign, but associated with Sturge-Weber syndrome
116
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome-- alcoholic and bulimic patients
117
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whipplei)
118
Worst headache of my life
Subarachnoid hemorrhage
