Abstract：
BACKGROUND:Leigh syndrome (LS) is a mitochondrial disorder that shows abnormal basal ganglia lesion and psychomotor regression. Although vitamins have been used for LS, we have not found any effective drug. CASE PRESENTATION:A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diagnosed with LS according to the results of cerebrospinal fluid and high signal intensity in the bilateral striatum on T2-weighted magnetic resonance imaging. He demonstrated psychomotor delay and breathing disorders, but the progression was very slow. His symptoms suddenly worsened at the age of 24 years after acute epididymitis. He showed epileptic seizures simultaneously and his activities of daily living (ADL) significantly worsened. Several antiepileptic drugs were ineffective, but his seizures were suppressed by a low dose of perampanel and his ADL improved. CONCLUSION AND DISCUSSION:Our case showed that low-dose perampanel could be a drug for epileptic seizures and improvement of ADL in patients with LS.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Kimura S,Shiraishi H,Egawa K,Uchida M,Ueno Mdoi
10.1016/j.braindev.2020.07.008subject
Has Abstractpub_date
2021-01-01 00:00:00pages
157-159issue
1eissn
0387-7604issn
1872-7131pii
S0387-7604(20)30192-3journal_volume
43pub_type
abstract：:Mutations of the gene encoding the alpha2 subunit of the neuronal sodium channel, SCN2A, have been found in benign familial neonatal-infantile seizures (BFNIS). In Dravet syndrome, only one nonsense mutation of SCN2A was identified, while hundreds of mutations were found in the paralogue gene, SCN1A, which encodes the...
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：1989-01-01 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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pub_type： 杂志文章
doi：10.1016/j.braindev.2012.04.002
更新日期：2013-01-01 00:00:00
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更新日期：2011-08-01 00:00:00
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doi：10.1016/j.braindev.2018.01.010
更新日期：2018-06-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2013.05.003
更新日期：2013-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00277-7
更新日期：2001-11-01 00:00:00
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doi：10.1016/j.braindev.2009.11.005
更新日期：2010-04-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80299-3
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abstract：:The electroencephalographic features and their evolutional changes with age were described in three cases of lissencephaly syndrome diagnosed by CT scan. The case with more severe lissencephaly displayed very similar EEG findings. In early or middle infancy when infantile spasms began, EEG showed very high amplitude (...
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：2005-08-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：2021-01-15 00:00:00
