Satogami Kazumi, Takahashi Shun, Kose Asami, Shinosaki Kazuhiro
Department of Neuropsychiatry, Wakayama Medical University, 811-1 Kimiidera, Wakayama, Japan.
Department of Neuropsychiatry, Wakayama Medical University, 811-1 Kimiidera, Wakayama, Japan.
Asian J Psychiatr. 2017 Feb;25:249-250. doi: 10.1016/j.ajp.2016.12.012. Epub 2016 Dec 24.
Leigh syndrome is a mitochondrial disease characterized by subacute necrotizing encephalomyelopathy. Almost all cases of Leigh syndrome develop at infancy or early childhood and die within several years due to rapidly progressive muscle weakness and respiratory failure. Here, we present a rare case of a patient who developed Leigh syndrome associated with thiamine-responsive pyruvate dehydrogenase-complex deficiency at 2 years of age and has survived to adolescence through effective high dose thiamin therapy. At 15 years of age, the patient presented persecutory delusions and auditory hallucinations, suggesting an association between mitochondrial dysfunction and schizophrenia-like psychotic symptoms.
Leigh综合征是一种以亚急性坏死性脑脊髓病为特征的线粒体疾病。几乎所有的Leigh综合征病例都在婴儿期或幼儿期发病,由于快速进展的肌肉无力和呼吸衰竭,在几年内死亡。在此,我们报告一例罕见病例,该患者在2岁时患与硫胺素反应性丙酮酸脱氢酶复合物缺乏相关的Leigh综合征,通过有效的高剂量硫胺素治疗存活至青春期。15岁时,该患者出现被害妄想和幻听,提示线粒体功能障碍与精神分裂症样精神病性症状之间存在关联。