コレマツ　セイゴ   KOREMATSU Seigo   是松　聖悟    所属   埼玉医科大学  医学部 総合医療センター　小児科（小児科､総合周産期母子医療センター新生児科、小児救命救急センター）    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	Clinical presentation of patients with neurofibromatosis type 1 in infancy and childhood: genetic traits and gender effects.
掲載誌名	正式名：Journal of child neurology ISSNコード：08830738
出版社	SAGE PUBLICATIONS INC
巻・号・頁	23(11),1282-7頁
著者・共著者	So-ichi Suenobu,Kensuke Akiyoshi,Tomoki Maeda,Seigo Korematsu,Tatsuro Izumi
発行年月	2008/11
概要	The clinical presentations of 32 patients with neurofibromatosis type 1 were examined based on genetic traits, clinical findings, electroencephalogram, and neuroimaging findings. Twenty-eight sequential magnetic resonance images showed multifocal hyperintense T2-weighted images in 14 patients. Seven (5 boys and 2 girls) of the 8 patients (88%) who inherited neurofibromatosis type 1 from affected mothers, and 7 (2 boys and 5 girls) of the 16 de novo patients (44%) had multifocal hyperintense T2-weighted images. In contrast, the patients who inherited this disease from affected fathers did not have any multifocal hyperintense T2-weighted images. Multiple plexiform neurofibromas were observed in 4 patients, of whom 3 boys inherited through at least 3 generations of women. They all presented severe psychomotor delay and epilepsy. These findings suggest that genetic traits, especially through the passage of several generations of women, may affect the clinical presentation in patients with neurofibromatosis type 1.
DOI	10.1177/0883073808318539
PMID	18984837