Leigh syndrome with Fukuyama congenital muscular dystrophy

A case report

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

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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
Volume36
Issue number8
DOIs
Publication statusPublished - 01-01-2014

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Walker-Warburg Syndrome
Leigh Disease
Mutation
Electron Transport Complex I
Lactic Acidosis
Muscle Hypotonia
Muscle Weakness
Hydrocephalus
Mitochondrial DNA
DNA Sequence Analysis
Genes
Magnetic Resonance Imaging
Brain

All Science Journal Classification (ASJC) codes

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

Cite this

Kondo, H., Tanda, K., Tabata, C., Hayashi, K., Kihara, M., Kizaki, Z., ... 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
Kondo, Hidehito ; Tanda, Koichi ; Tabata, Chihiro ; Hayashi, Kohei ; Kihara, Minako ; Kizaki, Zenro ; Ikeda, Mariko ; Mori, Masato ; Murayama, Kei ; Ohtake, Akira. / Leigh syndrome with Fukuyama congenital muscular dystrophy : A case report. In: Brain and Development. 2014 ; Vol. 36, No. 8. pp. 730-733.
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Kondo, H, Tanda, K, Tabata, C, Hayashi, K, Kihara, M, Kizaki, Z, Ikeda, M, Mori, M, Murayama, K & Ohtake, A 2014, 'Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report', Brain and Development, vol. 36, no. 8, pp. 730-733. https://doi.org/10.1016/j.braindev.2013.09.005

Leigh syndrome with Fukuyama congenital muscular dystrophy : A case report. / Kondo, Hidehito; Tanda, Koichi; Tabata, Chihiro; Hayashi, Kohei; Kihara, Minako; Kizaki, Zenro; Ikeda, Mariko; Mori, Masato; Murayama, Kei; Ohtake, Akira.

In: Brain and Development, Vol. 36, No. 8, 01.01.2014, p. 730-733.

Research output: Contribution to journalArticle

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Kondo H, Tanda K, Tabata C, Hayashi K, Kihara M, Kizaki Z et al. Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report. Brain and Development. 2014 Jan 1;36(8):730-733. https://doi.org/10.1016/j.braindev.2013.09.005