Differential diagnosis of phakomatoses

• Neurofibromatosis Type I
• Neurofibromatosis Type II
• Sturge-Weber syndrome
• Tuberous sclerosis
• Von Hippel Lindau disease

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