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?
- A)Meningiomas and ependymomas
- B)Optic pathway gliomaGABARITO
- C)Bilateral vestibular schwannomas
- D)Port wine stain in the V1 distribution
- E)Hemangioblastomas of the cerebellum
Explicação
Optic pathway glioma is correct. Neurofibromatosis type 1 is caused by mutation of the neurofibromin tumor suppressor gene and presents with cafe au lait macules, axillary freckling, neurofibromas, and Lisch nodules. Associated tumors include optic gliomas and... Ver explicação completa e trilha adaptativa →