USMLE Step 1: Clinical presentations
Clinical presentations
Clinical presentations
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Lernkarten
Clinical presentation:
Polyuria, acidosis, growth failure, electrolyte imbalances
Diagnosis/disease:
Fanconi's syndrome (proximal tubular reabsorption defect)
Clinical presentation:
Positive anterior "drawer sign"
Diagnosis/disease:
Anterior cruciate ligament (ACL) injury
Clinical presentation:
Ptosis, miosis, anhidrosis
Diagnosis/disease:
Horner's syndrome (sympathetic chain lesion)
Clinical presentation:
Pupil accommodates but doesn't react
Diagnosis/disease:
Argyll Robertson pupil (neurosyphilis)
Clinical presentation:
Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)
Diagnosis/disease:
Guillain-Barré syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
Clinical presentation:
Rash on palms and soles
Diagnosis/disease:
Coxsackie A, 2° syphilis, Rocky Mountain spotted fever
Clinical presentation:
Recurrent colds, unusual eczema, high serum IgE
Diagnosis/disease:
Hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)
Clinical presentation:
Red "currant jelly" sputum in alcoholic or diabetic patients
Diagnosis/disease:
Klebsielle pneumoniae
Clinical presentation:
Red, itchy, swollen rash of nipple/areola
Diagnosis/disease:
Paget's disease of the breast (represents underlying neoplasm)
Clinical presentation:
Red urine in the morning, fragile RBCs
Diagnosis/disease:
Paroxysmal nocturnal hemoglobinuria
Clinical presentation:
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
Diagnosis/disease:
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
Clinical presentation:
Resting tremor, rigidity, akinesia, postural instability
Diagnosis/disease:
Parkinson's disease (nigrostriatal dopamine depletion)
Clinical presentation:
Retinal hemorrhages with pale centers
Diagnosis/disease:
Roth's spots (bacterial endocarditis)
Clinical presentation:
Severe jaundice in neonate
Diagnosis/disease:
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Clinical presentation:
Severe RLQ pain with rebound tenderness
Diagnosis/disease:
McBurney's sign (appendicitis)
Clinical presentation:
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Diagnosis/disease:
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Clinical presentation:
Single palm crease
Diagnosis/disease:
Simian crease (Down syndrome)
Clinical presentation:
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Diagnosis/disease:
Kartagener's syndrome (dynein arm defect affecting cilia)
Clinical presentation:
Skin hyperpigmentation
Diagnosis/disease:
Addison's disease (1° adrenocortical insufficiency causes increased ACTH and alpha-MSH production)
Clinical presentation:
Slow, progressive muscle weakness in boys
Diagnosis/disease:
Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's)
Clinical presentation:
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Diagnosis/disease:
Koplik spots (measles; rubeola virus)
Clinical presentation:
Smooth, flat, moist white lesions on genitals
Diagnosis/disease:
Condylomata lata (2° syphilis)
Clinical presentation:
Splinter hemorrhages in fingernails
Diagnosis/disease:
Bacterial endocarditis
Clinical presentation:
"Strawberry tongue"
Diagnosis/disease:
Scarlet fever, Kawasaki disease, toxic shock syndrome
Clinical presentation:
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth
Diagnosis/disease:
Turner syndrome (45X0, short stature, webbed neck, lymphedema)
Clinical presentation:
Sudden swollen/painful big toe joint, tophi
Diagnosis/disease:
Gout/podagra (hyperuricemia)
Clinical presentation:
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Diagnosis/disease:
Scurvy (vit C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
Clinical presentation:
Swollen, hard, painful finger joints
Diagnosis/disease:
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
Clinical presentation:
Systolic ejection murmur (crescendo-decrescendo)
Diagnosis/disease:
Aortic valve stenosis
Clinical presentation:
Thyroid and parathyroid tumors, pheochromocytoma
Diagnosis/disease:
MEN 2A (autosomal dominant ret mutation)
Clinical presentation:
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
Diagnosis/disease:
MEN 2B (autosomal dominant ret mutation)
Clinical presentation:
Toe extension/fanning upon plantar scrape
Diagnosis/disease:
Babinski sign (upper motor neuron lesion)
Clinical presentation:
Unilateral fascial drooping involving forehead
Diagnosis/disease:
Bell's palsy (LMN CN VII palsy)
Clinical presentation:
Urethritis, conjunctivitis, arthritis in a male
Diagnosis/disease:
Reactive arthritis associated with HLA-B27
Clinical presentation:
Vascular birthmark (port-wine stain)
Diagnosis/disease:
Hemangioma (benign, but associated with Sturge-Weber syndrome)
Clinical presentation:
Vomiting blood following esophagogastric lacerations
Diagnosis/disease:
Mallory-Weiss syndrome (alcoholic and bulimic patients)
Clinical presentation:
"Waxy" casts with very low urine flow
Diagnosis/disease:
Chronic end-stage renal disease
Clinical presentation:
WBC casts in urine
Diagnosis/disease:
Acute pyelonephritis
Clinical presentation:
Weight loss, diarrhea, arthritis, fever, adenopathy
Diagnosis/disease:
Whipple's disease (tropheryma whippelii)
Clinical presentation:
"Worst headache of my life"
Diagnosis/disease:
Subarachnoid hemorrhage
