We report a 5-year-old male with a PDHA1 variant who presented with alternating hemiplegia of childhood and later developed developmental regression, basal ganglia injury and episodic lactic acidosis. Enzyme assay in lymphocytes confirmed a diagnosis of Pyruvate Dehydrogenase Complex (PDC) deficiency. His mother who was heterozygous for the same variant suffered from ophthalmoplegia, chronic migraine and developed flaccid paralysis at 36 years of age. PDHA1 is the most common genetic cause of PDC deficiency and presents with a myriad of neurological phenotypes including neonatal form with lactic acidosis, non-progressive infantile encephalopathy, Leigh syndrome subtype and intermittent ataxia. The presentations in our 2 patients contribute to the clinical heterogeneity of this neurogenetic condition.

我们报告了一名患有 PDHA1变异的 5 岁男性，他表现出儿童期交替性偏瘫，后来发展为发育退化、基底神经节损伤和偶发性乳酸酸中毒。淋巴细胞中的酶测定证实了丙酮酸脱氢酶复合物 (PDC) 缺乏症的诊断。他的母亲是同一变异体的杂合子，在 36 岁时患有眼肌麻痹、慢性偏头痛和弛缓性麻痹。PDHA1是 PDC 缺乏最常见的遗传原因，并呈现出无数的神经学表型，包括伴有乳酸性酸中毒的新生儿形式、非进行性婴儿脑病、Leigh 综合征亚型和间歇性共济失调。我们 2 名患者的表现导致了这种神经遗传病症的临床异质性。