Barkovich A J, Ferriero D M, Barr R M, Gressens P, Dobyns W B, Truwit C L, Evrard P
Faculté de Médicine Xavier-Bichat (Université de Paris VII), Hôpital Robert-Debré, France.
Neuropediatrics. 1998 Jun;29(3):113-9. doi: 10.1055/s-2007-973545.
We report the neonatal courses, early postnatal development, and neuroimaging findings of 17 patients with marked microcephaly and simplified cerebral gyral patterns, a condition that we call microlissencephaly. Retrospective analyses of the clinicoradiologic features of these patients allowed segregation of the patients into 5 distinct groups with varying outcomes. The apparent discreteness of these groups suggests multiple etiologies of this malformation, although there appears to be a strong genetic component with probable autosomal recessive inheritance. Utilizing the neonatal course and neuroradiologic features of these infants allows classification of specific subsets, which may be useful to predict outcome.
我们报告了17例患有明显小头畸形和简化脑回模式(我们称之为微小脑回畸形)患者的新生儿病程、出生后早期发育情况及神经影像学检查结果。对这些患者临床放射学特征的回顾性分析,可将患者分为5个不同组,其预后各不相同。这些组别的明显差异提示该畸形存在多种病因,尽管似乎有很强的遗传因素,可能为常染色体隐性遗传。利用这些婴儿的新生儿病程和神经放射学特征可对特定亚组进行分类,这可能有助于预测预后。