Ehara H, Kurimasa A, Ohno K, Takeshita K
Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan.
Pediatr Neurol. 1998 May;18(5):445-51. doi: 10.1016/s0887-8994(97)00231-2.
An 8-year-old Japanese boy had Sakoda complex (basal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate) associated with bilateral anophthalmia, dysgenesis of the cerebral cortex, severe mental retardation, and intractable epilepsy as core symptoms and hemiparesis, microcephalus, short stature, and hemivertebra. Tada and Nakamura described the first case of the Sakoda complex associated with bilateral anophthalmia, cortical dysgenesis, neonatal-onset seizures, and severe mental retardation. Fourteen patients with the Sakoda complex with or without ocular dysplasia were reviewed. It is proposed that these cases belong to a clinical entity that is distinguishable from the remaining 12 patients because of bilateral anophthalmia, cortical dysgenesis, and its resulting severe mental retardation and intractable epilepsy. There is a possibility that these two cases are one severe end of certain spectrum disorders in which certain common gene(s) might be implicated.
一名8岁日本男孩患有坂田综合征（基底脑膨出、胼胝体发育不全、唇裂和/或腭裂），伴有双侧无眼球、大脑皮质发育不全、严重智力迟钝和顽固性癫痫等核心症状，以及偏瘫、小头畸形、身材矮小和半椎体。多田和中村描述了首例伴有双侧无眼球、皮质发育不全、新生儿期发作癫痫和严重智力迟钝的坂田综合征病例。对14例有或无眼部发育异常的坂田综合征患者进行了回顾。有人提出，这些病例属于一种临床实体，因其双侧无眼球、皮质发育不全及其导致的严重智力迟钝和顽固性癫痫，可与其余12例患者区分开来。这两例病例有可能是某些谱系障碍中严重的一端，其中可能涉及某些共同基因。
