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

Vol. 60 No. 2, 2019

ROMANIAN JOURNAL of MORPHOLOGY and EMBRYOLOGY

Magdalena Budisteanu, Carmen Magdalena Burloiu, Sorina Mihaela Papuc, Ina Ofelia Focsa, Dan Riga, Sorin Riga, Aurora Arghir

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.

Corresponding author: Magdalena Budisteanu, Associate Professor, MD, PhD; e-mail: magda_efrim@yahoo.com

Download PDF