Heckmann H, Ang L C, Casey R, George D H, Lowry N, Shokeir M H
Department of Pathology, University of Saskatchewan, Saskatoon, Canada.
Pediatr Neurosurg. 1991;17(4):192-5. doi: 10.1159/000120594.
Leigh's disease was found postmortem in a 5-year-old girl who was diagnosed clinically as Cornelia de Lange syndrome at age 1 year. The child's neurological status began to deteriorate rapidly at age 4.5 years and she died suddenly 6 months later. Postmortem examination of the brain revealed bilateral necrosis of the hypothalamus, subthalamic nuclei, midbrain, pons, and medulla. Previous studies have linked Cornelia de Lange syndrome to hypothalamic lesions. This case demonstrates that Leigh's disease, which also damages the hypothalamus, could present with phenotypic features of Cornelia de Lange syndrome.
在一名5岁女孩尸检时发现患有 Leigh 病，该女孩1岁时临床诊断为科妮莉亚·德朗热综合征。患儿在4.5岁时神经状态开始迅速恶化，6个月后突然死亡。脑部尸检显示下丘脑、丘脑底核、中脑、脑桥和延髓双侧坏死。既往研究已将科妮莉亚·德朗热综合征与下丘脑病变联系起来。该病例表明，同样损害下丘脑的 Leigh 病可能表现出科妮莉亚·德朗热综合征的表型特征。
