USMLE Step 1: Clinical presentations
Clinical presentations
Clinical presentations
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Clinical presentation:
Fever, night sweats, weight loss
Diagnosis/disease:
B symptoms (lymphoma)
Clinical presentation:
Fibrous plaques in soft tissue of penis
Diagnosis/disease:
Peyronie's disease (connective tissue disorder)
Clinical presentation:
Gout, mental retardation, self-mutilating behavior in a boy
Diagnosis/disease:
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Clinical presentation:
Gout, mental retardation, self-mutilating behavior in a boy
Diagnosis/disease:
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Clinical presentation:
Green-yellow rings around peripheral cornea
Diagnosis/disease:
Kayser-Fleisch rings (copper accumulation from Wilson's disease)
Clinical presentation:
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Diagnosis/disease:
Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk)
Clinical presentation:
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Diagnosis/disease:
Gaucher's disease (glucocerebrosidase deficiency)
Clinical presentation:
Hereditary nephritis, sensorineural hearing loss, cataracts
Diagnosis/disease:
Alport syndrome (mutation in alpha chain of collagen IV)
Clinical presentation:
Hereditary nephritis, sensorineural hearing loss, cataracts
Diagnosis/disease:
Alport syndrome (mutation in alpha chain of collagen IV)
Clinical presentation:
Hypercoagulability (leading to migrating DVTs and vasculitis)
Diagnosis/disease:
Trousseau's sign (adenocarcinoma of pancreas or lung)
Clinical presentation:
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Diagnosis/disease:
Klüver-Bucy syndrome (bilateral amygdala lesion)
Clinical presentation:
Hyperreflexia, hypertonia, positive Babinski sign
Diagnosis/disease:
UMN damage
Clinical presentation:
Hypertension, hypokalemia, metabolic alkalosis
Diagnosis/disease:
Conn's syndrome
Clinical presentation:
Hyporeflexia, hypotonia, atrophy
Diagnosis/disease:
LMN damage
Clinical presentation:
Hyporeflexia, hypotonia, atrophy
Diagnosis/disease:
LMN damage
Clinical presentation:
Hypoxemia, polycythemia, hypercapnia
Diagnosis/disease:
"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
Clinical presentation:
Indurated, ulcerated genital lesion
Diagnosis/disease:
- Nonpainful: chancre (1° syphilis, Treponema pallidum)
- Painful, with exudate; chancroid (Haemophilus ducreyi)
Clinical presentation:
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Diagnosis/disease:
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Clinical presentation:
Infant with hypoglycemia, failure to thrive and hepatomegaly
Diagnosis/disease:
Cori's disease (debranching enzyme deficiency)
Clinical presentation:
Infant with microcephaly, rocker-bottom feet, clenched hands and structural heart defect
Diagnosis/disease:
Edwards' syndrome (trisomy 18)
Clinical presentation:
Keratin pearls on a skin biopsy
Diagnosis/disease:
Squamous cell carcinoma
Clinical presentation:
Large rash with bull's-eye appearance
Diagnosis/disease:
Erythema chronicum migrans from Ixodes tick bite (Lyme disease)
Clinical presentation:
Lucid interval after traumatic brain injury
Diagnosis/disease:
Epidural hematoma (middle meningeal artery rupture)
Clinical presentation:
Male child, recurrent infections, no mature B cells
Diagnosis/disease:
Bruton's disease (X-linked agammaglobulinemia)
Clinical presentation:
Mucosal bleeding and prolonged bleeding time
Diagnosis/disease:
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Clinical presentation:
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Diagnosis/disease:
Gardner's syndrome (subtype of FAP)
Clinical presentation:
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Diagnosis/disease:
Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency)
Clinical presentation:
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
Diagnosis/disease:
Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies)
Clinical presentation:
Neonate with arm paralysis following difficult birth
Diagnosis/disease:
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
Clinical presentation:
No lactation postpartum, absent menstruation, cold intolerance
Diagnosis/disease:
Sheehan's syndrome (pituitary infarction)
Clinical presentation:
No lactation postpartum, absent menstruation, cold intolerance
Diagnosis/disease:
Sheehan's syndrome (pituitary infarction)
Clinical presentation:
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Diagnosis/disease:
Multiple sclerosis
Clinical presentation:
Oscillating slow/fast breathing
Diagnosis/disease:
Cheyne-Stokes respirations (central apnea in CHF or increased intercranial pressure)
Clinical presentation:
Painful blue fingers/toes, hemolytic anemia
Diagnosis/disease:
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
Clinical presentation:
Painful, raised red lesions on palms and soles
Diagnosis/disease:
Osler's node (infective endocarditis)
Clinical presentation:
Painless erythematous lesions on palms and soles
Diagnosis/disease:
Janeway lesions (infective endocarditis)
Clinical presentation:
Painless jaundice
Diagnosis/disease:
Cancer of the pancreatic head obstructing bile duct
Clinical presentation:
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child)
Diagnosis/disease:
Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidney's)
Clinical presentation:
Pancreatic, pituitary, parathyroid tumors
Diagnosis/disease:
MEN 1 (autosomal dominant)
Clinical presentation:
Pink complexion, dyspnea, hyperventilation
Diagnosis/disease:
"Pink puffer" (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin deficiency])
