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 | |
| Publication status | Published - 01-01-2014 |
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All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Clinical Neurology
Cite this
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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 journal › Article
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 - Ikeda, Mariko
AU - Mori, Masato
AU - Murayama, Kei
AU - Ohtake, Akira
PY - 2014/1/1
Y1 - 2014/1/1
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.
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UR - http://www.scopus.com/inward/citedby.url?scp=84904463059&partnerID=8YFLogxK
U2 - 10.1016/j.braindev.2013.09.005
DO - 10.1016/j.braindev.2013.09.005
M3 - Article
VL - 36
SP - 730
EP - 733
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 8
ER -