James G. Smirniotopoulos MD, Presenter: Nothing to Disclose

Thomas P. Naidich MD, Presenter: Nothing to Disclose

1) Define the five most common phakomatoses: NF1, NF2, Tuberous, Sclerosis, Sturge-Weber Syndrome, and von Hippel-Lindau disease. 2) Define and recognize the clinical and imaging characteristics of these phakomatoses. 3) Identify the neoplastic complications of these complex disorders.

This refresher course will present a summary of the imaging and clinical features of the common phakomatoses as well as discuss some of the more unusual neuroectodermal disorders. Neurofibromatosis type 1 is associated with prominent cutaneous lesions (hyperpigmented macules and neurofibromas); optic nerve astrocytomas; transient lesions in the deep brain; intra- and paraspinal neurofibromas; and, increased risk for glioblastoma and malignant nerve sheath tumors. The NF1 gene is a mutation on the long arm of chromosome 17. The MISME syndrome (NF2) is characterized by few cutaneous findings. There is a high penetrance of multiple intracranial Schwannoma (usually bilateral vestibular); multiple intracranial meningiomas, intradural-extramedullary Schwannoma and meningioma; and, intramedullary ependymoma. This gene is on chromosome 22. Tuberous Sclerosis may be described as a disorder of neuronal migration. Full mantle cortical tubers, white matter streaks, and subependymal hamartomatous nodules may all result from the same defect. Patients also develop pulmonary lymphangioleiomyomatosis; angiomyolipoma of kidney and liver; and, both cyts and cancer in the kidney. The TSC1 gene is on chromosome 9, and TSC2 on chromosome 16.

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Smirniotopoulos, J, Naidich, T, Phakomatoses: Common and Uncommon.  Radiological Society of North America 2007 Scientific Assembly and Annual Meeting, November 25 - November 30, 2007 ,Chicago IL. http://archive.rsna.org/2007/4425893.html