Neurofibromatosis presenting with aqueductal stenosis due to a tumor of the aqueduct: case report.
A 17-year-old boy with neurofibromatosis presented with delayed puberty and epileptic seizures of recent onset. A computed tomographic scan revealed aqueductal stenosis due to a tumor of the aqueduct. This tumor was found at autopsy to be a pilocytic astrocytoma. Aqueductal stenosis in neurofibromatosis is uncommon and has been considered to be a result of periaqueductal gliosis. This seems to be the first report of neurofibromatosis associated with a tumor of the aqueduct.
D000293:Adolescent; D001254:Astrocytoma / Q000473:pathology; D002535:Cerebral Aqueduct / Q000473:pathology*; D002551:Cerebral Ventricle Neoplasms / Q000473:pathology*; D003251:Constriction, Pathologic / Q000473:pathology; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology; D007427:Intracranial Pressure; D008297:Male; D009456:Neurofibromatosis 1 / Q000473:pathology*; D014057:Tomography, X-Ray Computed