Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation

Naomi Hino-Fukuyo, Atsuo Kikuchi, Masaki Iwasaki, Yuko Sato, Yuki Kubota, Tomoko Kobayashi, Tojo Nakayama, Kazuhiro Haginoya, Natsuko Arai-Ichinoi, Tetsuya Niihori, Ryo Sato, Tasuku Suzuki, Hiroki Kudo, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Shigeo Kure

研究成果: Article査読

3 被引用数 (Scopus)

抄録

We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance imaging detected no porencephaly, and she had no cataract or renal abnormality. Following a presurgical evaluation for epilepsy, she underwent a functional hemispherectomy. She has been seizure free with no intracranial hemorrhage or other perioperative complications. Patients with a COL4A1 mutation have an increased risk for intracranial hemorrhage because of disrupted integrity in the vascular basement membrane due to the mutation. After weighing the risks and benefits to these patients, epilepsy surgery may not be absolutely contraindicated. Furthermore, pediatric neurologists should be aware of an undiagnosed COL4A1 mutation when a patient presents with an unexplained neurological phenotype, such as mild hemiparesis, even in the absence of porencephaly.

本文言語English
ページ(範囲)337-340
ページ数4
ジャーナルBrain and Development
39
4
DOI
出版ステータスPublished - 2017 4 1

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 発達神経科学
  • 臨床神経学

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