Bode H, Bubl R
Universitäts-Kinderspital, Basel.
Schweiz Rundsch Med Prax. 1992 Dec 15;81(51):1529-33.
Lissencephaly is in most cases a genetic anomaly of the brain development with agyria and/or pachygyria. It causes severe psychomotor retardation and epilepsy, which is often resistant to therapy. Some patients with type-I lissencephaly show cranial and facial dysmorphism and a deletion of chromosome 17p13.3 (Miller-Dieker syndrome). The isolated lissencephaly sequence occurs without these features. Patients with type-II lissencephaly present additional malformations of the posterior fossa and of the eyes (Walker-Warburg syndrome) and in some cases muscular dystrophy (cerebro-oculomuscular syndrome). Lissencephaly can be suspected with a high probability by its typical EEG. It is proved by imaging techniques. Therapeutic success is limited, the life expectancy is strongly reduced.
无脑回畸形在大多数情况下是一种伴有无脑回和/或巨脑回的脑发育遗传异常。它会导致严重的精神运动发育迟缓及癫痫，而癫痫往往对治疗有抵抗性。一些I型无脑回畸形患者表现出颅面部畸形以及17p13.3染色体缺失（米勒 - 迪克尔综合征）。孤立性无脑回序列征则无这些特征。II型无脑回畸形患者还存在后颅窝和眼部的其他畸形（沃克 - 沃伯格综合征），部分病例伴有肌肉萎缩（脑眼肌综合征）。根据其典型脑电图，可高度怀疑无脑回畸形。通过成像技术得以证实。治疗成功率有限，预期寿命大幅缩短。
