Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3036921 | Brain and Development | 2014 | 4 Pages |
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.
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Developmental Neuroscience
Authors
Hidehito Kondo, Koichi Tanda, Chihiro Tabata, Kohei Hayashi, Minako Kihara, Zenro Kizaki, Mariko Taniguchi-Ikeda, Masato Mori, Kei Murayama, Akira Ohtake,