USMLE Step 1: Clinical presentations
Clinical presentations
Clinical presentations
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Clinical presentation:
Abdominal pain, ascites, hepatomegaly
Diagnosis/disease:
Budd-Chiari syndrome (posthepatic venous thrombosis)
Clinical presentation:
Achilles tendon xanthoma
Diagnosis/disease:
Familial hypercholesterolemia
Clinical presentation:
Adrenal hemorrhage, hypotension, DIC
Diagnosis/disease:
Waterhouse-Friderichsen snydrome (meningococcemia)
Clinical presentation:
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Diagnosis/disease:
Marfan's syndrome (fibrillin defect)
Clinical presentation:
Athlete with polycythemia
Diagnosis/disease:
Erythropoietin injection
Clinical presentation:
Back pain, fever, night sweats, weight loss
Diagnosis/disease:
Pott's disease (vertebral tuberculosis)
Clinical presentation:
Bilateral hilar adenopathy, uveitis
Diagnosis/disease:
Sarcoidosis (noncaseating granulomas)
Clinical presentation:
Blue sclera
Diagnosis/disease:
Osteogenesis imperfecta (collagen defect)
Clinical presentation:
Bluish line on gingiva
Diagnosis/disease:
Burton's line (lead poisoning)
Clinical presentation:
Bone pain, bone enlargement, arthritis
Diagnosis/disease:
Paget's disease of bone (increased osteoblastic & osteoclastic activity)
Clinical presentation:
Bounding pulses, diastolic heart murmur, head bobbing
Diagnosis/disease:
Aortic regurgitation
Clinical presentation:
"Butterfly" facial rash and Raynaud's phenomenon in a young female
Diagnosis/disease:
Systemic lupus erythematosus
Clinical presentation:
Café-au-lait spots, Lisch nodules (iris hamartoma)
Diagnosis/disease:
Neurofibromatosis type I (+pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+bilateral acoustic neuromas)
Clinical presentation:
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
Diagnosis/disease:
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Clinical presentation:
Calf pseudohypertrophy
Diagnosis/disease:
Muscular dystrophy (most commonly Duchenne's): X-linked recessive deletion of dystrophin gene
Clinical presentation:
"Cherry-red spot" on macula
Diagnosis/disease:
- Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation)
- central retinal artery occlusion
Clinical presentation:
Chest pain on exertion
Diagnosis/disease:
Angina (stable: moderate exertion; unstable: minimal exertion)
Clinical presentation:
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Diagnosis/disease:
Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Clinical presentation:
Child uses arms to stand up from squat
Diagnosis/disease:
Gowers' sign (Duchenne muscular dystrophy)
Clinical presentation:
Child with fever develops red rash on face that spreads to body
Diagnosis/disease:
"Slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)
Clinical presentation:
Chorea, dementia, caudate degeneration
Diagnosis/disease:
Huntington's disease (autosomal-dominant CAG repeat expansion)
Clinical presentation:
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
Diagnosis/disease:
McArdle's disease (muscle glycogen phosphorylase deficiency)
Clinical presentation:
Cold intolerance
Diagnosis/disease:
Hypothyroidism
Clinical presentation:
Conjugate lateral gaze palsy, horizontal diplopia
Diagnosis/disease:
Internuclear ophthalmoplegia (damage to MLF; bilateral (MS), unilateral (stroke))
Clinical presentation:
Continuius "machinery" heart murmur
Diagnosis/disease:
PDA (patent ductus arteriosus [close with indomethacin; open with misoprostol])
Clinical presentation:
Cutaneous/dermal edema due to connective tissue deposition
Diagnosis/disease:
Myxedema (caused by hypothyroidism, Graves' disease [periorbital])
Clinical presentation:
Dark purple skin/mouth nodules
Diagnosis/disease:
Kaposi's sarcoma (usually AIDS patients: associated with HHV-8)
Clinical presentation:
Deep, labored breathing/hyperventilation
Diagnosis/disease:
Kussmaul breathing (diabetic ketoacidosis)
Clinical presentation:
Dermatitis, dementia, diarrhea
Diagnosis/disease:
Pellagra (niacin [vit B3] deficiency)
Clinical presentation:
Dilated cardiomyopathy, edema, polyneuropathy
Diagnosis/disease:
Wet beriberi (thiamine [vit B1] deficiency)
Clinical presentation:
Dog or cat bite resulting in infection
Diagnosis/disease:
Pasteurella multocida (cellulitis at inoculation site)
Clinical presentation:
Dry eyes, dry mouth, arthritis
Diagnosis/disease:
Sjögren's syndrome (autoimmune destruction of exocrine glands)
Clinical presentation:
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Diagnosis/disease:
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Clinical presentation:
Elastic skin, hypermobility of joints
Diagnosis/disease:
Ehlers-Danlos syndrome (type III collagen defect)
Clinical presentation:
Enlarged, hard left supraclavicular node
Diagnosis/disease:
Virchow's node (abdominal metastasis)
Clinical presentation:
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Diagnosis/disease:
Sézary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
Clinical presentation:
Facial muscle spasm upon tapping
Diagnosis/disease:
Chvostek's sign (hypocalcemia)
Clinical presentation:
Fat, female, forty, fertile
Diagnosis/disease:
Acute cholelithiasis (bile duct blockage)
Clinical presentation:
Fever, chills, headache, myalgie following antibiotic treatment for syphilis
Diagnosis/disease:
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
Clinical presentation:
Fever, cough, conjunctivitis, coryza, diffuse rash
Diagnosis/disease:
Measles (Morbillivirus)
