Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss

Vykuntaraju K. Gowda; Sukanya Vignesh; Balamurugan NagarajanVarunvenkat M. SrinivasanManojna BattinaMaya BhatRita Christopher

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Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss

机译：Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss

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Biotinidase deficiency is a treatable neurometabolic disorder. It usually presents during the first year of life with seizures, ataxia, hypotonia, vision and hearing disturbance, alopecia, and skin rashes. It can have various neuroimaging findings but demyelinating leukoencephalopathy is an unusual finding in children with biotinidase deficiency that can cause diagnostic challenge as it can radiologically mimic perinatal hypoxic-ischemic encephalopathy or other leukodystrophies. It reverses with early diagnosis and treatment with biotin supplementation and the outcome is rewarding.

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来源
《Journal of pediatric genetics》 |2022年第2期|87-90|共4页
作者
Vykuntaraju K. Gowda; Sukanya Vignesh; Balamurugan NagarajanVarunvenkat M. SrinivasanManojna BattinaMaya BhatRita Christopher;
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作者单位

Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka;

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原文格式 PDF
正文语种英语
中图分类儿科学;
关键词
leukoencephalopathy; demyelination; biotinidase; neurometabolic disorders;

Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss

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