Neuropediatrics
DOI: 10.1055/s-0040-1715631
Short Communication

Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants

1  Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany
,
Johannes A. Mayr
2  Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria
,
Sarah Grünert
3  Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany
,
Angela Abicht
4  Medical Genetic Center Munich, Munich, Germany
,
1  Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany
› Author Affiliations
Funding This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Abstract

Episodic encephalopathy due to mutations in the thiamine pyrophosphokinase 1 (TPK1) gene is a rare autosomal recessive metabolic disorder. Patients reported so far have onset in early childhood of acute encephalopathic episodes, which result in a progressive neurologic dysfunction including ataxia, dystonia, and spasticity. Here, we report the case of an infant with TPK1 deficiency (compound heterozygosity for two previously described pathogenic variants) presenting with two encephalopathic episodes and clinical stabilization under oral thiamine and biotin supplementation. In contrast to other reported cases, our patient showed an almost normal psychomotor development, which might be due to an early diagnosis and subsequent therapy.



Publication History

Received: 24 December 2019

Accepted: 28 May 2020

Publication Date:
21 October 2020 (online)

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