Abstract：
:We report on the clinical, neuropathological, and genetic findings of a Japanese case with myocerebrohepatopathy spectrum (MCHS) disorder due to polymerase gamma (POLG) mutations. A girl manifested poor sucking and failure to thrive since 4 months of age and had frequent vomiting and developmental regression at 5 months of age. She showed significant hypotonia and hepatomegaly. Laboratory tests showed hepatocellular dysfunction and elevated protein and lactate levels in the cerebrospinal fluid. Her liver function and neurologic condition exacerbated, and she died at 8 months of age. At autopsy, fatty degeneration and fibrosis were observed in the liver. Neuropathological examination revealed white matter-predominant spongy changes with Alzheimer type II glia and loss of myelin. Enzyme activities of the respiratory chain complex I, III, and IV relative to citrate synthase in the muscle were normal in the biopsied muscle tissue, but they were reduced in the liver to 0%, 10%, and 14% of normal values, respectively. In the liver, the copy number of mitochondrial DNA compared to nuclear DNA was reduced to 3.3% of normal values as evaluated by quantitative polymerase chain reaction. Genetic analysis revealed compound heterozygous mutations for POLG (I1185T/A957V). This case represents the differential involvement of multiple organs and phenotype-specific distribution of brain lesions in mitochondrial DNA depletion disorders.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Montassir H,Maegaki Y,Murayama K,Yamazaki T,Kohda M,Ohtake A,Iwasa H,Yatsuka Y,Okazaki Y,Sugiura C,Nagata I,Toyoshima M,Saito Y,Itoh M,Nishino I,Ohno Kdoi
10.1016/j.braindev.2014.10.013subject
Has Abstractpub_date
2015-08-01 00:00:00pages
719-24issue
7eissn
0387-7604issn
1872-7131pii
S0387-7604(14)00261-7journal_volume
37pub_type
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journal_title：Brain & development
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journal_title：Brain & development
pub_type： 杂志文章,评审
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更新日期：2004-03-01 00:00:00
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doi：10.1016/j.braindev.2010.09.011
更新日期：2011-08-01 00:00:00
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pub_type： 杂志文章
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pub_type： 杂志文章,评审
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更新日期：2002-08-01 00:00:00
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journal_title：Brain & development
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：2020-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,随机对照试验
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更新日期：2017-06-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.09.007
更新日期：2007-05-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,评审
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更新日期：2001-11-01 00:00:00
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journal_title：Brain & development
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更新日期：2021-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/S0387-7604(03)00161-X
更新日期：2004-06-01 00:00:00
abstract：:Eighty participants (62 males; 18 females; age range: 6-16 years) took part in the study, comprising four groups of 20 subjects each: TS-only, ADHD-only, TS+ADHD, controls. The age distributions, did not differ significantly among the four groups. The severity of symptoms, assessed by the TSGS, did not differ signific...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.12.003
更新日期：2007-08-01 00:00:00
