A Case of Neurofibromatosis Type I with Moyamoya Syndrome and Ganglioneuroma in Lung.

Sim,  Ji Yun; Lim,  Jeong Sook; Han,  Youn Soo; Kim,  Ji Yoon; Kim,  Won Seop

Case Report

Journal of the Korean Child Neurology Society 2009;17(2):221-225.
Published online November 30, 2009.

A Case of Neurofibromatosis Type I with Moyamoya Syndrome and Ganglioneuroma in Lung.

Ji Yun Sim, Jeong Sook Lim, Youn Soo Han, Ji Yoon Kim, Won Seop Kim

Department of Pediatrics, College of Medicine, Chungbuk National University Cheongju, Korea. wskim@chungbuk.ac.kr

Abstract

Neurofibromatosis type I is one of the most common neurocutaneous syndrome which is inherited by autosomal dominant manner, characterized by cafe au-lait spots, axillary freckling, Lisch nodules in iris, multiple neurofibromas and bone involvement with pseudoarthrosis, bowing of the long bone. And Moyamoya disease is a specific disease characterized by progressive idiopathic stenosis and eventual occlusion of the large cerebral arteries at the circle of Willis. In response to the stenosis, an abnormal network of small collateral vessels develops, creating the "puff of smoke". Intracranial lesions associated with Neurofibromatosis type I include optic glioma, sphenoid wing dysplasia, "unidentified bright objects" and cerebrovascular lesions such as Moyamoya syndrome and aneurysm. Moyamoya syndrome is an uncommon association of neurofibromatosis type 1 and lung mass has not frequently been found with neurofibromatosis and moyamoya syndrome. We report a case with Neurofibromatosis type I with Moyamoya syndrome and ganglioneuroma in lung with reviewing literatures.

Key Words: Moyamoya disease, Neurofibromatoses, Ganglioneuroma