Division of Child Neurology, Sant Joan de Déu Hospital, University of Barcelona, Barcelona, Spain.
Institut de Recerca Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Ann Neurol. 2017 Sep;82(3):317-330. doi: 10.1002/ana.24998. Epub 2017 Aug 30.
Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, and high excretion of organic acids that are specific of thiamine-dependent mitochondrial enzymes, mainly lactate, alpha-ketoglutarate, and branched chain keto-acids. Undiagnosed and untreated thiamine deficiencies are often fatal or lead to severe sequelae. Herein, we describe the clinical and genetic characterization of 79 patients with inherited thiamine defects causing encephalopathy in childhood, identifying outcome predictors in patients with pathogenic SLC19A3 variants, the most common genetic etiology. We propose diagnostic criteria that will aid clinicians to establish a faster and accurate diagnosis so that early vitamin supplementation is considered. Ann Neurol 2017;82:317-330.
导致硫胺素缺乏的原发性和继发性疾病在儿童中具有重叠特征，表现为急性脑病发作、双侧对称脑损伤以及硫胺素依赖的线粒体酶特异性的有机酸大量排泄，主要是乳酸、α-酮戊二酸和支链酮酸。未经诊断和治疗的硫胺素缺乏症通常是致命的或导致严重的后遗症。在此，我们描述了 79 名遗传性硫胺素缺陷导致儿童期脑病的患者的临床和遗传特征，确定了致病性 SLC19A3 变异患者（最常见的遗传病因）的预后预测因素。我们提出了诊断标准，将有助于临床医生更快、更准确地诊断，从而考虑早期补充维生素。神经病学年鉴 2017;82:317-330。
