伴有双侧颞叶前部囊肿的非进行性白质脑病：一例报告并文献复习

Non-progressive leukoencephalopathy with bilateral anterior temporal cysts: a case report and review of the literature.

作者信息

Grosso Salvatore, Cerase Alfonso, De Stefano Nicola, Marco Luisa De, Galluzzi Paolo, Galimberti Daniela, Morgese Guido, Balestri Paolo

机构信息

Department of Pediatrics, University of siena, Viale M. Bracci-Le Scotte, 53100 Siena, Italy.

出版信息

Brain Dev. 2005 Jan;27(1):73-7. doi: 10.1016/j.braindev.2004.04.009.

DOI:10.1016/j.braindev.2004.04.009

PMID:15626547

Abstract

A newly described disease is characterized by anterior bilateral temporal lobe cysts associated with multilobar leukoencephalopathy and a non-progressive clinical course. We report a patient with bilateral anterior temporal lobe cystic changes associated with a non-progressive neurological disorder, microcephaly, spasticity, mental retardation, and sensorineural deafness. From the literature, 12 other patients have shown a similar phenotype. The common neuroradiological findings in these patients have been bilateral anterior temporal lobe cystic changes and non-progressive leukoencephalopathy. By contrast, variability in the clinical phenotype has been observed, ranging from severe neuromotor handicap with mental retardation and microcephaly to spasticity in the lower limbs associated with normal cognitive function. The pathological basis of the defect remains to be defined.

摘要

一种新描述的疾病的特征是双侧颞叶前部囊肿，伴有多叶性白质脑病和非进行性临床病程。我们报告了一名患有双侧颞叶前部囊性改变的患者，伴有非进行性神经疾病、小头畸形、痉挛、智力发育迟缓以及感觉神经性耳聋。从文献来看，另外12名患者表现出了相似的表型。这些患者常见的神经影像学表现为双侧颞叶前部囊性改变和非进行性白质脑病。相比之下，临床表型存在差异，从伴有智力发育迟缓和小头畸形的严重神经运动障碍到伴有正常认知功能的下肢痉挛。该缺陷的病理基础仍有待确定。