Classic Presentations Flashcards
(120 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
Anterior “drawer sign” positive
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, iveitis
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 Raynaud phenomenon in a young female
A
Systemic lupus erythematosus (SLE)
14
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type I (plus pheochromocytoma, optic gliomas)
15
Q
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
16
Q
Calf pseudohypertrophy
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 (sphingomyelin accumulation), central retinal artery occlusion
18
Q
Chest pain on exertion
A
Angina (stable: with moderate exertion; unstable: with minimal exertion)
19
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
20
Q
Child uses arms to stand up from squat
A
Gowers sign (Duchenne muscular dystrophy)
21
Q
Child with fever later develops red rash on face that spreads to body
A
“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)
22
Q
Chorea, dementia, caudate degeneration
A
Huntington disease (autosomal dominant CAG repeat expansion)
23
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle disease (muscle glycogen phosphorylase deficiency)
24
Q
Cold intolerance
A
Hypothyroidism
25
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
26
Continuous "machine-like" heart murmur
PDA (close with indomethacin; open or maintain with misoprostol)
27
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
28
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
29
Kaposi-like lesions in an AIDS patient, but not
Bacillary angiomatosis (Bartonella heneslea, use silver stain to detect, treat with sulfa drugs or erythromycin)
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 beriberi (thiamine [vitamine B1] deficiency
33
Dog or cat bite resulting in infection
Pasteurella multocida (cellutlitis at inoculation site)
34
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune 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, hypermobility of joints
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 Sezary syndrome (mycosis fungoides + malignant T cells in blood)
39
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
40
Fat, female, forty, and fertile
Cholelithiasis (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-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
46
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilsons disease)
47
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (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 syndrome (mutation in collagen IV)
50
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
51
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
52
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
53
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
54
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum)
| Painful, with exudate: chandroid (Haemophilus ducreyi)
55
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patua syndrome (trisomy 13)
56
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
57
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphate deficiency, more severe)
58
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
59
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
60
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
61
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
62
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
63
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
64
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
65
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
66
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
67
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
68
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infaction)
69
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
70
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
71
Painful blue fingers/toes/ hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mononucleosis)
72
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mononucleosis)
73
Painful, pale, cold fingers/toes
Raynoud phenomenon (vasospasm in extremities)
74
Painful, raised red lesions on pad of fingers/toes
Osler nodes (infective endocarditis, 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-Schonlein 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 syndrome
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 (6 P's)
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/upper respiratory infection
Guillain-Barre syndrome (acute autoimmune 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 alcoholic or diabetic patients
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 RBCs
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 crosslink repair; often progresses to AML)
99
Single palmar crease
Down syndrome
100
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
101
Skin hyperpigmentation, hypotension, fatigue
Addison disease (primary adrenocortical insuficiency causes increased ACTH and increased alpha-MSH production)
102
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
103
Small, irregular red spots in buccal/lingual mucosa with blue-white cneters
Koplik spots (measles; rubeola virus)
104
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (secondary syphilis)
105
Splinter hemorrhages in fingernails
Bacterial endocarditis
106
"Strawberry tongue"
Scarlet fever, Kawasaki disease, toxic shock syndrome
107
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45, XO)
108
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
109
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis
110
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
111
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
112
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
113
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
114
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
115
Unilateral facial drooping involving forehead
Facial Nerve (LMN CN VII palsy)
116
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
117
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
118
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
119
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
120
"Worst headache of my life"
Subarachnoid hemorrhage
