Kroon A A, Smit B J, Barth P G, Hennekam R C
Department of Neonatology, Academic Medical Centre, Amsterdam, The Netherlands.
Neuropediatrics. 1996 Oct;27(5):273-6. doi: 10.1055/s-2007-973778.
A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia. The diagnosis was made by postmortem magnetic resonance imaging, indicating the value of such studies to evaluate neuronal migration disorders in patients in whom autopsy cannot be performed. Two earlier described microlissencephaly syndromes, the "Barth" and "McComb" type, are reviewed.
报告了一名患有罕见型无脑回畸形的新生儿,其特征为大脑和小脑极度发育不全。诊断通过死后磁共振成像做出,表明此类研究对于评估无法进行尸检的患者的神经元迁移障碍具有价值。对先前描述的两种微无脑回综合征,即“巴特”型和“麦库姆”型进行了综述。