Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature.

Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature. Rom J Morphol Embryol. 2019;60(2):713-716 Authors: Budişteanu M, Burloiu CM, Papuc SM, Focşa IO, Riga D, Riga S, Arghir A Abstract Neurofibromatosis type 1 (NF1) is a genetic disorder with a very heterogeneous clinical picture, affecting central nervous system, skin and bone system. Cerebrovascular lesions, such as moyamoya syndrome, are rarely seen in NF1. Approximately 250 children with NF1 and moyamoya syndrome have been reported. The clinical picture includes hemiparesis, hemianopsia, paresthesia, seizures, speech disorders, and intellectual disability. In this paper, we report on a 6-year-old girl with NF1 and moyamoya syndrome, with a brief review of the existing literature. PMID: 31658349 [PubMed - in process]
Source: Romanian Journal of Morphology and Embryology - Category: General Medicine Tags: Rom J Morphol Embryol Source Type: research