USMLE Classic Presentations

wawolaci's version from 2017-01-04 14:37


Question Answer
Abdominal pain, ascites, hepatomegalyBudd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthomaFamilial hypercholesterolemia (↓ LDL receptor signaling)
Adrenal hemorrhage, hypotension, DICWaterhouse-Friderichsen syndrome (meningococcemia)
Anterior “drawer sign”Anterior cruciate ligament injury
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible jointsMarfan syndrome (fibrillin defect)
Athlete with polycythemiaSecondary to erythropoietin injection
Back pain, fever, night sweats, weight lossPott disease (vertebral TB)
Bilateral hilar adenopathy, uveitisSarcoidosis (noncaseating granulomas)
Blue scleraOsteogenesis imperfecta (type I collagen defect)
Bluish line on gingivaBurton line (lead poisoning)
Bone pain, bone enlargement, arthritisPaget disease of bone (↑ osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbingAortic regurgitation
“Butterfly” facial rash and Raynaud phenomenon in a young femaleSystemic lupus erythematosus
Café-au-lait spots, Lisch nodules (iris hamartomas)Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalitiesMcCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophyMuscular dystrophy (most commonly Duchenne), X-linked recessive deletion of dystrophin gene
“Cherry-red spots” on maculaTay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertionAngina (stable – with moderate exertion, unstable – with minimal exertion)
Chest pain, pericardial effusion/friction rub, persistent fever following MIDressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squatGowers sign (Duchenne muscular dystrophy)
Child with fever later develops red rash on face that spreads to body“Slapped cheeks” (erythema infectiosum/fifth disease, parvovirus B19)
Chorea, dementia, caudate degenerationHuntington disease (autosomal dominant GAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuriaMcArdle disease (muscle glycogen phosphorylase deficiency)
Cold intoleranceHypothyroidism
Conjugate lateral gaze palsy, horizontal diplopiaInternuclear opthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Continuous “machine-like” heart murmurPDA (close with indomethacin; open or maintain with misoprostol)
Cutaneous/dermal edema due to connective tissue depositionMyxedema (caused by hypothyroidism, Graves disease [pretibial])
Dark purple skin/mouth nodules in a patient with AIDSKaposi sarcoma, associated with HHV-8
Deep, labored breathing/hyperventilationKussmaul respirations (diabetic ketoacidosis)
Dermatitis, dementia, diarrheaPellagra (niacin [vitamin B3] deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutritionWet beriberi (thiamine [vitamin B1] deficiency)
Dog or cat bite resulting in infectionPasteurella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritisSjogren syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs), glossitis, iron deficiency anemiaPlummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Elastic skin, hypermobility of jointsEhlers-Danlos syndrome (type III collagen defect)
Enlarged, hard left supraclavicular nodeVirchow node (abdominal metastasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cellsMycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
Facial muscle spasm upon tappingChvostek sign (hypocalcemia)
Fat, female, forty and fertileCholelithiasis (gallstones)
Fever, chills, HA, myalgia following antibiotic treatment for syphilisJarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rashMeasles
Fever, night sweats, weight lossB symptoms of lymphoma
Fibrous plaques in soft tissue of penisPeyronie disease (connective tissue disorder)
Gout, intellectual disability, self-mutilating behavior in a boyLesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Green-yellow rings around peripheral corneaKayser-Fleischer rings (copper accumulation from Wilson disease)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/handsPeutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; ↑ cancer risk, mainly GI)
Hepatosplenomegaly, osteoporosis, neurologic symptomsGaucher disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataractsAlport syndrome (mutation in collagen IV)
Hyperphagia, hypersexuality, hyperorality, hyperdocilityKluver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, Babinski sign presentUMN damage
Hyporeflexia, hypotonia, atrophy, fasciculationsLMN damage
Hypoxemia, polycythemia, hypercapnia“Blue bloater” (chronic bronchitis – hyperplasia of mucous cells)
Indurated, ulcerated genital lesion, nonpainfulChancre (1ry syphilis)
Indurated, ulcerated genital lesion, painful w/exudateChancroid (H. ducreyi)
Infant w/cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasiaPatau syndrome (trisomy 13)
Infant w/FTT, hepatosplenomegaly & neurodegenerationNiemann-Pick disease (genetic sphingomyelinase deficiency)
Infant w/hypoglycemia, failure to thrive, and hepatomegalyCori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphate deficiency, more severe)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defectEdwards syndrome (trisomy 18)
Jaundice, palpable distended non-tender gallbladderCourvoisier sign (distal obstruction of biliary tree)
Large rash with bull’s-eye appearanceErythema chronicum migrans from Ixodes tick bite (Lyme disease; Borrelia)
Lucid interval after traumatic brain injuryEpidural hematoma (middle meningeal artery rupture)
Male child, recurrent infections, no mature B cellsBruton disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding timeGlanzmann thrombasthenia (defect in platelet aggregation d/t lack of GpIIb/IIIa)
Muffled heart sounds, distended neck veins, hypotensionBeck triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teethGardner syndrome (subtype of FAP)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerancePompe disease (lysosomal a-1,4-glucosidase deficiency)
Neonate with arm paralysis following difficult birthErb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury; “waiter’s tip”)
No lactation postpartum, absent menstruation, cold intoleranceSheehan syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegiaMultiple sclerosis
Oscillating slow/fast breathingCheyne-Stokes respirations (central apnea in CHF or ↑ intracranial pressure)
Painful blue fingers/toes, hemolytic anemiaCold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
Painful, pale, cold fingers/toesRaynaud phenomenon (vasospasm in extremities)
Painful, raised red lesions on pad of fingers/toesOsler nodes (infective endocarditis, immune complex deposition)
Painless erythematous lesions on palms & solesJaneway lesions (infective endocarditis, septic embolic/microabscesses)
Painless jaundiceCancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuriaHenoch-Schonlein purpura (IgA vasculitis affecting skin & kidneys)
Pancreatic, pituitary, parathyroid tumorsMEN 1 (autosomal dominant)
Periorbital &/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemiaNephrotic syndrome
Pink complexion, dyspnea, hyperventilation“Pink puffer” (emphysema; centriacinar [smoking], panacinar [a1-antitrypsin deficiency])
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic ricketsFanconi syndrome (proximal tubular reabsorption defect)
Pruritic, purple, polygonal planar papules & plaques (6 P’s)Lichen planus
Ptosis, miosis, anhidrosisHorner syndrome (sympathetic chain lesion)
Pupil accommodates but doesn’t reactArgyll Robertson pupil (neurosyphilis)
Rapidly progressive leg weakness that ascends following GI/upper respiratory infectionGuillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
Rash on palms & solesCoxsackie A, 2ndry syphilis, Rocky Mountain spotted fever
Recurrent colds, unusual eczema, high serum IgEHyper-IgE syndrome (Job syndrome; neutrophil chemotaxis abnormality)
Red “currant jelly” sputum in alcoholic or diabetic patientsKlebsiella pneumoniae
Red, itchy, swollen rash of nipple/areolaPaget disease of the breast (sign of underlying neoplasm)
Red “currant jelly” stoolsAcute mesenteric ischemia (adults), intussusception (infants)
Red urine in the morning, fragile RBCsParoxysmal nocturnal hemoglobinuria
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytomavon Hippel-Lindau disease (dominant tumor suppressor gene mutation)
Resting tremor, rigidity, akinesia, postural instabilityParkinson disease (nigrostriatal dopamine depletion)
Retinal hemorrhages w/pale centersRoth spots (bacterial endocarditis)
Severe jaundice in neonateCrigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain w/palpation of LLQRovsing sign (acute appendicitis)
Severe RLQ pain w/rebound tendernessMcBurney sign (acute appendicitis)
Short stature, ↑ incidence of tumors/leukemia, aplastic anemiaFanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Single palmar creaseDown syndrome
Situs inversus, chronic sinusitis, bronchiectasis, infertilityKartagener syndrome (dynein arm defect affecting cilia)
Skin hyperpigmentation, hypotension, fatigueAddison disease (1ry adrenocortical insufficiency causes ↑ACTH & ↑ a-MSH production)
Slow, progressive muscle weakness in boysBecker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
Small, irregular red spots on buccal/lingual mucosa with blue-white centersKoplik spots (measles; rubeola virus)
Smooth, flat, moist, painless white lesions on genitalsCondylomata lata (2ndry syphilis)
Splinter hemorrhages in fingernailsBacterial endocarditis
“Strawberry tongue”Scarlet fever, Kawasaki disease, toxic shock syndrome
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedemaTurner syndrome (45,XO)
Sudden swollen/painful big toe joint, tophiGout/podagra (hyperuricemia)
Swollen gums, mucosal bleeding, poor wound healing, petechiaeScurvy (vitamin C deficiency; can’t hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger jointsOsteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
Systolic ejection murmur (crescendo-decrescendo)Aortic valve stenosis
Thyroid & parathyroid tumors, pheochromocytomaMEN 2A (autosomal dominant ret mutation)
Thyroid tumors, pheochromocytoma, ganglioneuromatosisMEN 2B (autosomal dominant ret mutation)
Toe extension/fanning upon plantar scrapeBabinski sign (UMN lesion)
Unilateral facial drooping involving foreheadFacial nerve (LMN CN VII palsy)
Urethritis, conjunctivitis, arthritis in maleReactive arthritis associated w/HLA-B27
Vascular birthmark (port-wine stain)Hemangioma (benign, but associated w/Sturge-Weber syndrome)
Vomiting blood following gastroesophageal lacerationsMallory-Weiss syndrome (alcoholic & bulimic patients)
Weight loss, diarrhea, arthritis, fever, adenopathyWhipple disease (Tropheryma whipplei)
“Worst headache of my life”Subarachnoid hemorrhage