Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria.
Neuropediatrics. 2021 Apr;52(2):123-125. doi: 10.1055/s-0040-1715631. Epub 2020 Oct 21.
Episodic encephalopathy due to mutations in the thiamine pyrophosphokinase 1 () 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 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.
由于硫胺素焦磷酸激酶 1 () 基因突变引起的发作性脑病是一种罕见的常染色体隐性代谢紊乱。迄今为止报道的患者在儿童早期发病，急性脑病发作导致进行性神经功能障碍，包括共济失调、肌张力障碍和痉挛。在这里，我们报告了一例婴儿 缺乏症（两种先前描述的致病性变异的复合杂合性）的病例，该患儿表现为两次脑病发作，并在口服硫胺素和生物素补充治疗下临床稳定。与其他报道的病例不同，我们的患者表现出几乎正常的精神运动发育，这可能是由于早期诊断和随后的治疗。
