Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report |
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| Authors: | Hidehito Kondo Koichi Tanda Chihiro Tabata Kohei Hayashi Minako Kihara Zenro Kizaki Mariko Taniguchi-Ikeda Masato Mori Kei Murayama Akira Ohtake |
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| Affiliation: | 1. Department of Pediatrics and Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Japan;2. Department of Pediatrics, Osaka University Graduate School of Medicine, Japan;3. Division of Pediatrics, Kobe University Graduate School of Medicine, Japan;4. Department of Pediatrics, Jichi Medical University, Japan;5. Department of Metabolism, Chiba Children’s Hospital, Japan;6. Department of Pediatrics, Saitama Medical University Hospital, Japan |
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| 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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| Keywords: | Leigh syndrome FCMD Mitochondria Complex I + II deficiency |
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