巨颅伴皮层下海绵样囊肿性脑白质病是近年来被认识的一种新的儿童脑白质病。这种脑白质病患者出生时头围增大 ,神经发育基本正常或接近正常。随后逐渐出现缓慢进展性运动功能恶化如走路不稳、共济失调、肢体痉挛和瘫痪 ,而同时智能损伤相对较轻。大多数患者可有惊厥发作但对抗惊厥治疗反应良好。除脑电图上可有痫样放电外其他神经电生理检查基本正常。在影像学上所有患儿的脑白质均受累 ,早期患者MRI上表现出脑组织水肿 ,特别是额叶以及颞叶和顶叶的前部十分明显 ,后期脑皮层下出现囊肿样变化。病理学显示这些囊肿样结构主要是由单一五层膜结构所构成的髓鞘板层覆盖的空泡。目前已知的、常见的遗传代谢物筛查在该病患者中无阳性发现。该病是一种常染色体隐性遗传病 ,位于 2 2qtel上的KIAA0 0 2 7基因被认为是该脑白质病的致病基因 Giant skull with subcortical sponge cystic leukosis is a new childhood leukoencephalopathy recognized in recent years. This leucocythemia patients increased head circumference at birth, nerve development was normal or near normal. Followed by progressive deterioration of slow progressive motor function such as walking instability, ataxia, limb spasms and paralysis, while at the same time being less likely to have a mild impairment. Most patients may have seizures but respond well to anticonvulsant therapy. In addition to the epileptiform discharge on the EEG may be other normal electrophysiological examination. All of the children with cerebral white matter involvement were involved in imaging. Early MRI showed brain tissue edema, especially in frontal and frontal lobes of temporal and parietal lobes. Cyst-like changes occurred in the posterior cerebral cortex. Pathology shows that these cyst-like structures are mainly vacuoles covered by a myelin sheath consisting of a single five-layer membrane structure. Currently known, common genetic metabolites screening in patients with no positive findings. The disease is an autosomal recessive disease, KIAA0 0 2 7 gene located on 2 2 qtel is considered to be the causative agent of leukoencephalopathy