Double phakomatosis; neurofibromatosis type-1 and tuberous sclerosis
A M Alaraj1, T Valyi-Nagy, B Roitberg
1Department of Neurosurgery, University of Illinois at Chicago, Chicago, IL 60612, USA. alaraj@uic.edu
Abstract:
Neurocutaneous syndromes represent some of the most common inherited disorders of the nervous system. Neurofibromatosis type-1 (NF-1) and tuberous sclerosis are well described. Yet, the presentation of both syndromes in the same patient is quite rare. We performed a thorough review of the literature of such double phakomatosis including pattern of inheritance. Eleven cases were reported in the literature. In addition we report a young patient who presented with clinical picture suggestive of both NF-1 and tuberous sclerosis, and present a radiographic and histopathological description of the case.
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