Double phakomatosis; neurofibromatosis type-1 and tuberous sclerosis.
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.
Alaraj
A M
AM
Department of Neurosurgery, University of Illinois at Chicago, Chicago, IL 60612, USA. alaraj@uic.edu
Valyi-Nagy
T
T
Roitberg
B
B
D000328:Adult; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography; D014402:Tuberous Sclerosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology