Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report

Hidehito Kondo, Koichi Tanda, Chihiro Tabata, Kohei Hayashi, Minako Kihara, Zenro Kizaki, Mariko Taniguchi-Ikeda, Masato Mori, Kei Murayama, Akira Ohtake

研究成果: Article

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We report the first case of Leigh syndrome (LS) with Fukuyama congenital muscular dystrophy (FCMD). A neonate suffered from lactic acidosis and subsequently presented with poor feeding, muscle weakness, hypotonia, cardiopulmonary dysfunction, and hydrocephalus. He died at 17. months. The findings of brain magnetic resonance imaging indicated some specific features of both LS and FCMD, and FCMD gene mutation was detected. Decreased mitochondrial respiratory complex I and II activity was noted. Mitochondrial DNA sequencing showed no pathogenic mutation. A case with complex I. +. II deficiency has rarely been reported, suggesting a nuclear gene mutation.

元の言語English
ページ(範囲)730-733
ページ数4
ジャーナルBrain and Development
36
発行部数8
DOI
出版物ステータスPublished - 09-2014

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

フィンガープリント Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report' の研究トピックを掘り下げます。これらはともに一意のフィンガープリントを構成します。

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    Kondo, H., Tanda, K., Tabata, C., Hayashi, K., Kihara, M., Kizaki, Z., Taniguchi-Ikeda, M., Mori, M., Murayama, K., & Ohtake, A. (2014). Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report. Brain and Development, 36(8), 730-733. https://doi.org/10.1016/j.braindev.2013.09.005