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

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)730-733
Number of pages4
JournalBrain and Development
Issue number8
Publication statusPublished - 09-2014
Externally publishedYes

All Science Journal Classification (ASJC) codes

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


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