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-10-93-b 10.15844/pedneurbriefs-10-12-8 Developmental Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Presymptomatic Diagnosis of Neurofibromatosis 2 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 12 1996 01 06 2016 10 12 93 93 Copyright: © 1996 The Author(s) 1996 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. Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations

The clinical spectrum of neurofibromatosis 2 (NF2) at the time of presymptomatic DNA diagnosis in at-risk first-degree relatives in five families were studied at the Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, and the Neurofibromatosis Institute, La Crescenta, CA.

 Neurofibromatosis 2 Presymptomatic Vestibular Schwannomas

The clinical spectrum of neurofibromatosis 2 (NF2) at the time of presymptomatic DNA diagnosis in at-risk first-degree relatives in five families were studied at the Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, and the Neurofibromatosis Institute, La Crescenta, CA. With molecular genetic analysis, 11 first-degree relatives were predicted to be at high risk, and 20 at low risk of carrying an NF2 mutation. Five mutation carriers, including a 31-year-old, had no clinical manifestations, while 4, including a 7-year-old, had vestibular schwannomas (VS), early-onset cataracts, or both. The identification of presymptomatic NF2 mutation carriers by DNA diagnosis permits improved genetic counselling and clinical management in at-risk subjects. The early detection of VS by gadolinium-enhanced MRI can improve surgical outcome. [1]

COMMENT. In NF2 mutation carriers, DNA testing may lead to early diagnosis, and optimal treatment and counselling. However, ethical factors must be considered in testing children because of health insurance and other discriminating issues.

Baser ME Mautner VF Ragge NK Nechiporuk A Riccardi VM Klein J Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations Neurology 1996 Nov 47 5 1269 1277 10.1212/WNL.47.5.1269 8909442