猫叫综合征一例中的小脑蚓部发育不全

Cerebellar vermis hypoplasia in a case of cri-du-chat syndrome.

作者信息

De Michele G, Presta M, Di Salle F, Serra L, Mazzaccara A, Della Rocca G, Ambrosio G, Filla A

机构信息

Department of Neurology, School of Medicine, Federico II. University, Naples, Italy.

出版信息

Acta Neurol (Napoli). 1993 Apr;15(2):92-6.

PMID:8328329

Abstract

We describe a 6-year-old child who presented the phenotype of cri-du-chat disease. The study of her caryotype confirmed an interstitial deletion of the short arm of chromosome 5. The neurological examination showed mental retardation, behavioral disturbances and features of cerebellar and cortico-spinal impairment. The MRI scan of the brain showed hypoplasia of the vermis associated with dysgenesia of the corpus callosum. This is the first report of vermian hypoplasia in cri-du-chat disease. We suggest that the most likely pathogenesis of this malformation is a midline dysraphia.

摘要

我们描述了一名表现出猫叫综合征表型的6岁儿童。对其核型的研究证实了5号染色体短臂的间质缺失。神经学检查显示智力发育迟缓、行为障碍以及小脑和皮质脊髓受损的特征。脑部MRI扫描显示小脑蚓部发育不全并伴有胼胝体发育异常。这是猫叫综合征中蚓部发育不全的首例报告。我们认为这种畸形最可能的发病机制是中线闭合不全。