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

doi:10.1016/j.braindev.2013.09.005

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 journal › Article › peer-review

2 Citations (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 language	English
Pages (from-to)	730-733
Number of pages	4
Journal	Brain and Development
Volume	36
Issue number	8
DOIs	https://doi.org/10.1016/j.braindev.2013.09.005
Publication status	Published - 09-2014
Externally published	Yes

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Clinical Neurology

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10.1016/j.braindev.2013.09.005

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@article{6c7390bcdfd449da890df0dc33063183,

title = "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 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.",

author = "Hidehito Kondo and Koichi Tanda and Chihiro Tabata and Kohei Hayashi and Minako Kihara and Zenro Kizaki and Mariko Taniguchi-Ikeda and Masato Mori and Kei Murayama and Akira Ohtake",

note = "Funding Information: This study was supported, in part, by an Innovative Cell Biology grant from Innovative Technology (Cell Innovation Program) of the Ministry of Education, Culture, Sports, Science, and Technology, Japan. Our work was also supported by grants-in-aid of the research on intractable diseases (mitochondrial disorders) of the Ministry of Health, Labour and Welfare of Japan.",

year = "2014",

month = sep,

doi = "10.1016/j.braindev.2013.09.005",

language = "English",

volume = "36",

pages = "730--733",

journal = "Brain and Development",

issn = "0387-7604",

publisher = "Elsevier B.V.",

number = "8",

}

TY - JOUR

T1 - Leigh syndrome with Fukuyama congenital muscular dystrophy

T2 - A case report

AU - Kondo, Hidehito

AU - Tanda, Koichi

AU - Tabata, Chihiro

AU - Hayashi, Kohei

AU - Kihara, Minako

AU - Kizaki, Zenro

AU - Taniguchi-Ikeda, Mariko

AU - Mori, Masato

AU - Murayama, Kei

AU - Ohtake, Akira

N1 - Funding Information: This study was supported, in part, by an Innovative Cell Biology grant from Innovative Technology (Cell Innovation Program) of the Ministry of Education, Culture, Sports, Science, and Technology, Japan. Our work was also supported by grants-in-aid of the research on intractable diseases (mitochondrial disorders) of the Ministry of Health, Labour and Welfare of Japan.

PY - 2014/9

Y1 - 2014/9

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/84904463059

UR - https://www.scopus.com/pages/publications/84904463059#tab=citedBy

U2 - 10.1016/j.braindev.2013.09.005

DO - 10.1016/j.braindev.2013.09.005

M3 - Article

C2 - 24113355

AN - SCOPUS:84904463059

SN - 0387-7604

VL - 36

SP - 730

EP - 733

JO - Brain and Development

JF - Brain and Development

IS - 8

ER -

Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report

Abstract

All Science Journal Classification (ASJC) codes

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