Hilburger A C, Willis J K, Bouldin E, Henderson-Tilton A
Department of Psychiatry and Neurology, Tulane University Medical Center, New Orleans, LA 70112.
Brain Dev. 1993 May-Jun;15(3):234-6. doi: 10.1016/0387-7604(93)90072-g.
Schizencephaly is a brain malformation characterized by infolding of cortical gray matter along a hemispheric cleft near the primary cerebral fissures. Although the etiology is unknown, genetic counseling has not been advocated because of its sporadic occurrence. We describe a family with two affected siblings. Both cases were characterized by hemiparesis, lack of gestational or postnatal complications, and diagnostic radiologic findings. We raise the possibility of a genetic etiology in some cases of schizencephaly and suggest a re-examination of the need for genetic counseling.
脑裂畸形是一种脑畸形，其特征是皮质灰质沿大脑主要裂隙附近的半球裂折叠。尽管病因不明，但由于其散发性发生，一直不提倡进行遗传咨询。我们描述了一个有两个患病兄弟姐妹的家庭。两例病例均以偏瘫、无孕期或产后并发症以及具有诊断意义的放射学表现为特征。我们提出在某些脑裂畸形病例中存在遗传病因的可能性，并建议重新审视遗传咨询的必要性。
