硫胺素
医学
张力减退
共济失调
复合杂合度
脑病
疾病
儿科
内科学
内分泌学
突变
基因
精神科
遗传学
生物
作者
Christina T. Rüsch,Saskia B. Wortmann,Réka Kovács-Nagy,Patrice Grehten,Johannes Häberle,Beatrice Latal,Georg M. Stettner
出处
期刊:Neuropediatrics
[Georg Thieme Verlag KG]
日期:2020-11-23
卷期号:52 (02): 126-132
被引量:6
标识
DOI:10.1055/s-0040-1715628
摘要
Abstract TPK deficiency due to TPK1 mutations is a rare neurodegenerative disorder, also known as thiamine metabolism dysfunction syndrome 5 (OMIM no.: 614458). Here, we report a new patient with compound heterozygous TPK1 mutations, of which one has not been described so far. The individual reported here suffered from acute onset encephalopathy, ataxia, muscle hypotonia, and regression of developmental milestones in early infancy, repeatedly triggered by febrile infections. Initiation of high-dose thiamine and magnesium supplementation led to a marked and sustained improvement of alertness, ataxia, and muscle tone within days. Contrary to the described natural history of patients with TPK deficiency, the disease course was favorable under thiamine treatment without deterioration or developmental regression during the follow-up period. TPK deficiency is a severe neurodegenerative disease. This case report demonstrates that this condition is potentially treatable. High-dose thiamine treatment should therefore be initiated immediately after diagnosis or even upon suspicion.
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