Differential diagnosis of phakomatoses

Approach to the differential diagnosis of phakomatoses:

  • Neurofibromatosis Type I – focal areas of signal intensity (FASI), optic nerve glioma, brainstem glioma
  • Neurofibromatosis Type II – multiple schwannomas of cranial nerves and spinal nerves, meningiomas and spinal cord ependymoma
  • Sturge-Weber syndrome – leptomeningeal angiomatosis leading to cortical atrophy and calcification
  • Tuberous sclerosis – subcortical tubers and subependymal nodules which can turn into subependymal giant cell astrocytomas (SEGA) near Foramen of Monroe
  • Von Hippel Lindau disease – hemangioblastoma of cerebellum