Coker S B, Thomas C
Department of Neurology, Loyola University Medical Center, Maywood, IL 60153, USA.
Clin Pediatr (Phila). 1995 Jul;34(7):349-52. doi: 10.1177/000992289503400702.
Two children are described with pathology-proven Leigh disease. Rather than the typical degenerative course with loss of acquired development, they presented with a static encephalopathy manifested by seizures from birth and failure to acquire any milestones. A similar connatal presentation has been reported in other degenerative disorders, such as Pelizaeus-Merzbacher disease. Heredodegenerative disorders should be considered when no cause is discovered for a severe, congenital, static encephalopathy.
本文描述了两名经病理证实患有 Leigh 病的儿童。他们并非呈现出典型的获得性发育丧失的退行性病程，而是表现为一种静态脑病，自出生起就有癫痫发作，且未获得任何发育里程碑。在其他退行性疾病中，如佩利措伊斯-梅茨巴赫病，也有类似的先天性表现。当未发现严重先天性静态脑病的病因时，应考虑遗传性退行性疾病。
