Neurodegenerative Diseases USMLE Step 1 Practice Question
A 9-year-old boy presents with multiple light brown skin macules, axillary freckling, and soft cutaneous nodules on physical examination. He reports progressive difficulty in school over the past year. Vital signs are normal (BP 110/68, HR 82, RR 18, Temp 98.6°F, SpO2 98%). Slit lamp examination reveals pigmented iris hamartomas. Brain MRI shows T2 hyperintense lesions in the optic pathways. He denies hearing loss. Which of the following additional findings is most strongly associated with this disorder?
Answer choices
- AMeningiomas and ependymomas
- BOptic pathway gliomaCorrect answer
- CBilateral vestibular schwannomas
- DPort wine stain in the V1 distribution
- EHemangioblastomas of the cerebellum
- FF. Acoustic neuromas with neurofibromatosis type 2
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