Abraham R, Kanda P A, Da Silva L J, De Mello P, Segre N G
Arq Neuropsiquiatr. 1986 Dec;44(4):364-72. doi: 10.1590/s0004-282x1986000400007.
Aicardi's syndrome is a clinical entity characterized by agenesis of the corpus callosum, severe mental subnormality, seizures (most frequently spasms in flexion), characteristic electroencephalographic changes (burst-suppression pattern), typical chorioretinal lacunae, present only in females. Other associated findings are rib and vertebral dysplasias; frequently found are cortical heterotopias. This syndrome is of hereditary origin, now considered a probable X-linked dominant trait with male lethality. The authors describe two cases of this syndrome with the full clinical picture.
艾卡里迪综合征是一种临床病症,其特征为胼胝体发育不全、严重智力发育迟缓、癫痫发作(最常见为屈曲性痉挛)、特征性脑电图改变(爆发抑制模式)、典型的脉络膜视网膜缺损(仅见于女性)。其他相关表现包括肋骨和椎体发育异常;常见的还有皮质异位。该综合征为遗传起源,现被认为可能是一种具有男性致死性的X连锁显性性状。作者描述了两例具有完整临床表现的该综合征病例。