PATHOLOGY—HIGH-YIELD CLINICAL VIGNETTES
These abstracted case vignettes are designed to demonstrate the thought processes necessary toanswer multistep clinical reasoning questions.
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Patient has multiple fractures, anemia, cranial nerve deficits
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in which of the following celltypes is there a defect?
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osteoclasts (e.g., osteopetrosis).
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35-year-oldman has high blood pressure in arms and low pressure in legs
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what is the diagnosis?
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coarctation of the aorta.
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Woman presents with diffuse goiter and hyperthyroidism
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what are the expected values of TSH and thyroid hormones?
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low TSH and high thyroid hormones.
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Patient exhibits an extended expiratory phase
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what is the disease process?
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obstructivelung disease.
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Woman presents with headache, visual disturbance, galactorrhea, and amenorrhea
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what isthe diagnosis?
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prolactinoma.
Path1.37
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Baby has foul-smelling stool and recurrent pulmonary infections
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what is the diagnosis, andwhat test is used?
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cystic fibrosis, chloride sweat test.
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Obese woman presents with hirsutism and increased levels of serum testosterone
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what is thediagnosis?
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polycystic ovarian syndrome.
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Man presents with extensive destruction of knees, subcutaneous nodules, and exquisite pain inthe metatarsophalangeal joint
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biopsy shows needle-like crystals
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what is the diagnosis?
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gouty arthritis.
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48-year-old female with progressive lethargy and cold intolerance
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what is the diagnosis?
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hypothyroidism.
Path1.33
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Patient with elevated serum cortisol levels undergoes dexamethasone suppression test. Onemilligram of dexamethasone does not decrease cortisol levels; 8 mg does
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what is the diagno-sis?
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pituitary tumor.
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During a game, a young basketball player collapses and dies immediately
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what type of cardiacdisease?
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hypertrophic cardiomyopathy.
Path1.10
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Child has been anemic since birth. Splenectomy would result in increased hematocrit in what dis-ease?
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spherocytosis.
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43-year-old man experiences dizziness and tinnitus. CT shows enlarged internal acoustic mea-tus
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what is the diagnosis?
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schwannoma.
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Child exhibits weakness and enlarged calves
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what is the disease, and how is it inherited?
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Duchenne’s muscular dystrophy, X-linked recessive.
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25-year-old female presents with sudden uniocular vision loss and slightly slurred speech. Shehas a history of weakness and paresthesias that have resolved
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what is the diagnosis?
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MS.
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Teenager presents with nephritic syndrome and hearing loss
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what is his disease?
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Alport’ssyndrome.
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Tall, thin male teenager has abrupt-onset dyspnea and left-sided chest pain. There is hyper-resonant percussion on the affected side, and breath sounds are diminished.
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what is thediagnosis?
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pneumothorax.
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Young man is concerned about his wife’s inability to conceive and her recurrent URIs. She hasdextrocardia
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which of her proteins is defective?
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dynein (Kartagener’s).
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UC
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