Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report

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 fin...

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Bibliographic Details
Published in:Brain & development (Tokyo. 1979) 2014-09, Vol.36 (8), p.730-733
Main Authors: Kondo, Hidehito, Tanda, Koichi, Tabata, Chihiro, Hayashi, Kohei, Kihara, Minako, Kizaki, Zenro, Taniguchi-Ikeda, Mariko, Mori, Masato, Murayama, Kei, Ohtake, Akira
Format: Article
Language:English
Subjects:
Brain - pathology
Complex I + II deficiency
FCMD
Humans
Infant, Newborn
Leigh Disease - complications
Leigh Disease - diagnosis
Leigh Disease - pathology
Leigh syndrome
Magnetic Resonance Imaging
Male
Mitochondria
Neurology
Walker-Warburg Syndrome - complications
Walker-Warburg Syndrome - diagnosis
Walker-Warburg Syndrome - metabolism
Walker-Warburg Syndrome - pathology
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Summary: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.
ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2013.09.005