A 24-year-old woman presents with a 4-month history of headaches and unsteadiness in walking. She reports a tendency to fall to the right and a loss of coordinated movements in her right hand and leg....

A 24-year-old woman presents with a 4-month history of headaches and unsteadiness in walking. She reports a tendency to fall to the right and a loss of coordinated movements in her right hand and leg. Her father and paternal aunt died of renal cell carcinoma. A paternal grandfather had a history of spinal cord tumors, and her sister is seeing an ophthalmologist for “retinal angiomas.” On examination, the woman has a widebased gait. She is unable to stand on her right leg and has intentional tremor and dysdiadokinesia of the right upper extremity. MRI reveals a right-sided parasagittal tumor of the cerebellum. A biopsy of the lesion demonstrates a hemangioblastoma. Which of the following is the most likely diagnosis?

(A) Down syndrome


(B) Multiple endocrine neoplasia type 2A (Sipple syndrome)


(C) Neurofibromatosis type 1


(D) Sturge-Weber syndrome


(E) Von Hippel-Lindau syndrome



May 24, 2022
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