1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-6-54 10.15844/pedneurbriefs-6-7-9 Cerebrovascular Disease Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant CVA with Neurofibromatosis Type I http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 07 1992 01 07 2016 6 7 54 55 Copyright: © 1992 The Author(s) 1992 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Progressive occlusive cerebrovascular disease in a patient with neurofibromatosis type 1

A two year old developmentally delayed girl with neurofibromatosis type I and a sudden onset of left sided hemiparesis is reported from the Children’s National Medical Center and George Washington University School of Medicine, Washington, D.C.

 Neurofibromatosis Type I Cerebral Angiography Moyamoya

A two year old developmentally delayed girl with neurofibromatosis type I and a sudden onset of left sided hemiparesis is reported from the Children’s National Medical Center and George Washington University School of Medicine, Washington, D.C. There was no history of sickle cell disease or hypertension. The hemiparesis gradually improved and the patient received aspirin, 80 mg. daily. Four months later there was a left focal seizure and an acute progression of the left hemiparesis. At 5 years of age the patient presented with sudden right-sided weakness and right focal seizure. Cerebral angiography revealed bilateral distal internal carotid arterial occlusion. [1]

COMMENT. Moyamoya may be seen in association with a number of systemic conditions including NF-1 or as a distinct disease entity of unclear etiology. Occlusion of the intracranial arteries is a rare complication of NF-1 and the progressive occlusion noted in this case appears to be unique.

The gene for NF-1 has been mapped to chromosome 17 and closely linked DNA markers have made accurate diagnosis by linkage analysis possible in most cases of familial NF-1. DNA testing by linkage analysis on 24 individuals with a family history of NF-1 and on 9 couples who requested testing for prenatal diagnosis was found useful as an adjunct to the clinical diagnosis 1) in children less than 6 years of age with incomplete clinical signs, 2) in NF-1 families for prenatal testing, and 3) when complete clinical examination is impracticle. [2]

 Gorelick MH Powell CM Rosenbaum KN Saal HM Conry J Fitz CR Progressive occlusive cerebrovascular disease in a patient with neurofibromatosis type 1 Clin Pediatr 1992 May 31 5 313 315 10.1177/000992289203100511 1582101 Hofman KJ Boehm CD Familial neurofibromatosis type 1: clinical experience with DNA testing J Pediatr 1992 Mar 120 3 394 398 10.1016/S0022-3476(05)80903-5 1347082