Science Quiz / FA USMLE Rapid Review Classic Presentations

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Name the Classic Presentations

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Classic PresentationDisease/DisorderExtra info
Hyperreflexia, hypertonia, Babinski sign present
Athlete with polycythemia
Dry eyes, dry mouth, parotid swelling, arthritis
Bone pain/fractures, weight loss, renal insufficiency, hypercalcemia
Congenital infection: intracerebral calcifications, chorioretinitis
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Adrenal hemorrhage, hypotension, DIC
Pruritic, purple, polygonal planar papules and plaques (6 P’s)
Cervical lymphadenopathy, desquamating rash, coronary, aneurysms, red conjunctivae and tongue, hand-foot changes
Elastic skin, hypermobility of joints, bleeding tendency
Achilles tendon xanthoma
Neonate with arm paralysis following difficult birth
Muffled heart sounds, distended neck veins, hypotension
Skin hyperpigmentation, hypotension, fatigue
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Vitamin deficiency: diarrhea, dementia, dermatitis; glossitis
Vitamin deficiency: night blindness, dry scaly skin, corneal degeneration, immunosuppression
Chest pain with ST depressions on EKG
Facial muscle spasm upon tapping
Chorea, dementia, caudate degeneration
Vitamin deficiency: cheilosis (inflammation of corners of lips), corneal vascularization
Pancreatic, pituitary, parathyroid tumors
Lucid interval after traumatic brain injury
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Bilateral acoustic schawnnomas
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Thrombocytopenia, eczema, recurrent infections
Male, child, recurrent infections, no mature B-cells
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises, lipid-laden macrophages
Congenital infection: rhinorrhea, bone abnormalities, desquamating rash
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Congenital infection: periventricular calcifications
Cerebellar defects, spider angiomas, IgA deficiency
Clotting disorder in a chronic kidney patient
Retinal hemorrhages with pale centers
Abdominal pain, ascites, hepatomegaly
Hyporeflexia, hypotonia, atrophy, fasciculations
Slow muscle relaxation, cataracts, balding, gonadal atrophy
Rash on palms and soles
Cutaneous/dermal edema due to connective tissue deposition
Red “currant jelly” stools
Splinter hemorrhages in fingernails
Early: triad of episodic peripheral neuropathy, angiokeratomas, hypohidrosis. Late: progressive renal failure, cardiovascular disease
Child uses arms to stand up from squat
Dermatitis, dementia, diarrhea
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Slow, progressive muscle weakness in boys
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Anaphylaxis following blood transfusion
Mucosal bleeding and prolonged bleeding time
Golden brown rings around peripheral cornea
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Bone pain, bone enlargement, arthritis
Periorbital and/or peripheral edema, proteinuria (> 3.5g/day), hypoalbuminemia, hypercholesterolemia
Painful blue fingers/toes, hemolytic anemia
Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
Vomiting blood following gastroesophageal lacerations
Ptosis, miosis, anhidrosis
Vitamin deficiency: macrocytic megaloblastic anemia, hypersegmented PMNs; subacute combined degeneration, parasthesias
“Butterly” facial rash and Raynaud phenomenon in a young female
“Worst headache of my life”
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
Vitamin deficiency: confusion, ophthalmoplegia, ataxia, personality change
Vitamin deficiency: convulsions, hyperiritability, peripheral neuropathy, sideroblastic anemia
Dark purple skin/mouth nodules in a patient with AIDS
Blue sclera, bone injuries
Enlarged, hard left supraclavicular node
Early in life: steatorrhea, acanthocytosis of RBCs, Vitamin ADEK deficiency
Child with fever later develops red rash on face that spreads to body
“Cherry-red spots” on macula
Bluish line on gingiva
GERD, GI bleeds, tense hand skin, distal vasoconstriction in cold
Dog or cat bite resulting in infection
Element poisoning: Acute: garlic breath, vomiting, diarrhea, QTc prolongation; Chronic: hypo/hyperpigmentation, hyperkeratosis, stocking-glove neuropathy
Progressive neurodegeneration, developmental delay, 'cherry-red' spot on macula, lysosomes with onion skin, (no hepatomegaly)
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Smooth, moist, painless, wart-like white lesions on genitals
Pt with HepB, mesenteric ischemia, renal failure, purpura, mononeuritis multiplex
Thyroid and parathyroid tumors, pheochromocytoma
Hypertension, hypokalemia, mild hypernatremia, metabolic alkalosis, mass in adrenal gland
Hereditary nephritis, sensorineural hearing loss, cataracts
Infant with hypoglycemia, hepatomegaly
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
“Strawberry tongue”
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Atypical pneumonia with hyponatremia
Muscle weakness with malar rash, Gottron papules, heliotrope rash, 'shawl and face' rash, 'mechanic's hands'
Systolic ejection murmur (crescendo-decrescendo)
Painful, raised red lesions on pads of fingers/toes
Pain and rash after treatment with Hydralazine, Procainimide, or Methyldopa
Hypoxemia, polycythemia, hypercapnia
Red urine in the morning, fragile RBCs
Short stature, café au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
Ambiguous genitalia, lack of sexual development; low sex hormones and cortisol; high mineralocorticoids
Episodic vertigo, tinnitus, hearing loss
Rapidly progressive limb weakness that ascends following GI/URI
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Conjugate horizontal gaze palsy, horizontal diplopia
Unilateral facial drooping involving forehead
Green vaginal discharge, 'strawberry cervix'
Red, itchy, swollen rash of nipple/areola
Flushing, diarrhea, right-sided heart lesions
Progressive neurodegeneration, hepatosplenomegaly, lipid-laden macrophages, 'cherry-red' spot on macula
Pupil accommodates but doesn’t react
Gout, intellectual disability, self-mutilating behavior in a boy
Fever, cough, conjunctivitis, coryza, diffuse rash
No lactation postpartum, absent menstruation, cold intolerance
Interstitial lung disease, constrictive pericarditis, renal crisis, calcinosis, raynauds, sclerodactyly, telangiectasias
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Fibrous plaques in soft tissue of penis with abnormal curvature
Vitamin deficiency: swollen gums, bruising, petechiae, hemarthrosis, poor wound healting
Delayed puberty, anosmia
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Weight loss, diarrhea, arthritis, fever, adenopathy
Painful fingers/toes changing color from blue to white to red with cold or stress
Back pain, fever, night sweats
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T-cells
Sudden swollen/painful big toe joint, tophi
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Congenital infection: cataracts, heart defects (PDA)
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Choreoathetoid movements, long-term antipsychotic use
Red “currant jelly” sputum in alcoholic or diabetic patients
Migratory arthritis, carditis, subcutaneous nodules, erythema marginatum, chorea
Fever, night sweats, weight loss
Staggering gait, frequent falling, nystagmus, dysarthria, pes cavus, hammer toes, diabetes, hypertrophic cardiomyopathy
Large rash with bull’s-eye appearance
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Unrelenting ear pain, purulent drainage in the elderly
Black eschar on face of patient with diabetic ketoacidosis
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Absence of UGT, severe jaundice in neonate, kernicterus
Calf pseudohypertrophy
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Vitamin deficiency: macrocytic megaloblastic anemia, hypersegmented neutrophils; glossitis
Continuous 'machine-like' heart murmur
Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Urethritis, conjunctivitis, arthritis in a male
Deep, labored breathing/hyperventilation
Bilateral hilar adenopathy, uveitis
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheocromocytoma
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Virilization and salt wasting; low mineralocorticoids and cortisol; high sex hormones
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
Painless erythematous lesions on palms and soles

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