Classic Presentations EC Flashcards
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (decreased LDL)
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 EPO 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 colagen 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 osteoblast AND osteoclastic activity)
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
aortic regurgitation
12
Q
Butterfly facial rash, Raynaud’s phenomenon in a young female
A
Systemic lupus erythematosus
13
Q
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnomalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
14
Q
Cafe-aulait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type 1 (pheochromocytoma, optic gliomas)
15
Q
Calf pseudohypertrophy
A
Muscular dystrophy (usually Duchene’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
Agina (stable:w/ moderate exertion, unstable:w/ minimal exertion)
18
Q
Chest pain, pericardial effusions/friction rub, persistent fever following MI
A
Dressler’s syndrome (autoimmune-mediated post MI fibrinous pericarditis)
19
Q
Child uses arms to stand up from squat
A
Gower’s sign of Duchene’s muscular dystrophy
20
Q
Child with fever later develops red rash on the face that spreads to the body
A
“slapped cheeks” (erythema infectiosum: 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 (median longitudinal fasciculus); Bilateral=MS, unilateral=stroke)
25
Continuous "machinery" like murmur
PDA (close with indomethacin; open or maintain with misoprostol)
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Grave's disease)
27
Dark purple skin/mouth nodules
Kaposi's sarcoma (AIDS): associated with HHV-8
28
Deep labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
29
Dermatitis, dementia, diarrhea
Pellagra (niacin/vit. B3 deficiency)
30
Dilated cardiomyopathy, edema, alcoholism, malnutrition
Wet beriberi (thiamine/vit. 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 SCC)
34
Elastic skin, hypermobile 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
Jarish-Herxheimer 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 young boy
Lesch-Nyhan 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
Puetz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, increased GI cancer risk)
Pigmented lips/mucosa/hands/feet
Jejunal polyps
46
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of collagen type IV)
48
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
49
Hyperreflexia, hypertonia, Babinski sign +
Upper motor neuron damage
50
Hyporeflexia, hypotonia, atrophy, fasciculations
Lower motor neuron damage
51
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
52
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis-Treponema pallidum)
Painful w/ exudate: Chancroid (Harmophilus ducreyi)
53
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau's syndrome (trisomy 13)
54
Infant with failure to thrive, hepatospenomegaly, 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 biliary tree)
58
Large rash with bull's-eye appearance
Erythema chronicum migrans from lxodes tick bite (Lyme disease: Borrelia)
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 agammaglobinemia)
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
Gardner's 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)
66
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
67
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
68
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or incraesed intra-cranial pressure)
69
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
70
Painful, pale, cold fingers/toes
Raynaud's phenomenon (vasospasm in 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 bile duct
74
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schoulein purpura (IgA vasculitis affecting skin and kidneys)
75
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
76
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
77
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha-antitrypsin deficiency])
78
Polyuria, renal tubular acidosis type II (proximal tubules), growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi's syndrome (proximal tubular resorption defect)
79
Positive anterior drawer sign
ACL injury
80
Pruritic, purple, polygonal planar papules and plaques (6Ps)
Lichen planus
81
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
82
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
83
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuopathy)
84
Rash on palms and soles
Coxackie A (hand-foot-mouth),
Secondary syphilis
Rocky Mountain spotted fever
85
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality due to decreased interferon gamma)
86
Red "currant jelly" sputum in alcoholic or diabetic
Klebsiella pneumoniae
87
Red "currant jelly" stools
Acute mesenteric ischemia (adults)
Intussusception (infants)
88
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (underlying DCIS)
89
Red urine in the morning, fragile RBCs
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 (nigrostiatal dopamine depletion)
92
Retinal hemorrhages with pale center
Roth's spots (ENDOCARDITIS, leukemia, diabetes, pernicious anemia)
93
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia due to deficient UGT1A1)
94
Severe RLQ pain with palpation of 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 (Down 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 missense 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 lesion on genitals
Condylomata 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, lyphedema
Turner syndrome (45XO)
106
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
107
Swollen gums, mucosal bleeding, poor would healing, spots on skin
Scurvy (vit. C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
108
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Haberden's nodes])
109
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
110
Thyroid and parathyroid tumors, pheochromocytoma
MEN IIA (autosomal dominant ret mutation)
111
Thyroid tumors, pheochromocytoma, gangioneuromatosis, Marfanoid habitus
MEN IIB (autosomal dominant ret mutation)
112
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
113
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
114
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
115
Vascular birthmark (port-wine stain)
Hemangioma (benign, 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
119
Urinary incontinence, ataxia, and cognitive dysfunction
Normal pressure hydrocephalus (increased CSF space with no increase in CSF pressure, distorts fibers of corona radiata)
"Wet, wobbly, and wacky"
120
Pain out of proportion to physical exam
Mesenteric ischemia
121
Double bubble on x-ray
Duodenal atresia (non-bilious vomiting 1st day of life- associated with Down's)
122
Ataxia, Telangiectasia (spider angiomas), and IgA deficiency
Ataxia-Telangiectasia
| defect in ATM gene resulting in failure to repair double-stranded DNA breaks
123
Thrombocytopenic purpura, Infections, Eczema
Wiskott-Aldrich syndrome
| Mutation in WAS gene- increased IgE and IgA
124
Infections of liver capsule with "violin string" adhesions of parietal peritoneum to liver
Fitz-Hugh-Curtis syndrome
| complication of PID
