Marinesco-Sjgren综合征的临床及影像学特征

The clinical and imaging features of Marinesco-Sjgren syndrome

目的 研究 Marinesco- Sjogren综合征的临床及影像学特征。方法 报告 1例 2 8岁女性Marinesco- Sjogren综合征患者的临床、实验室和影像学资料。结果 本例患者除具有小脑性共济失调、白内障、体格及智能发育障碍外 ,还有慢性肾功能障碍、甲状旁腺及性腺功能减退。染色体核型分析为 46 ,XX,1q+,2 2 s+。头颅 CT显示双侧豆状核 (壳及苍白球 )条片状高密度影 ,境界清楚 ,小脑萎缩 ;头颅 MRI显示小脑蚓部、半球体积小 ,小脑脑沟增宽 ,侧脑室、三脑室、四脑室、脑池扩大 ,左颞叶脑回增大 ,胼胝体膝部略细小。结论 Marinesco- Sjogren综合征具有体格及智能的发育障碍、先天性白内障、小脑性共济失调等临床特征。头颅 MRI检查有助于对 Marinesco- Sjogren综合征的早期诊断。

Objective To study the clinical and imaging features of Marinesco Sjgren syndrome.Methods The clinical,laboratorial and imaging information of a patient with Marinesco Sjgren syndrome (28 years old, female) was reported.Results The clinical findings included besides the major features of the syndrome, e.g. ataxia, cataracts, growth deficiency and mental retardation,chronic renal deficiency, hypoparathyroidism and hypogonadism. Karyotype of chromosome was 46,XX,1q +,22s +. CT scan showed stripped path like high density in both lenticular nucleus, cerebellar atrophy; MRI showed cerebellar vermis and hemispheres of small volume. Other abnormal superatentorial findings were showed in MRI, including enlarged third, fourth and lateral ventricles,and expanded cistern;pachygyria in left temporal lobe and a thin corpus callosum lap.Conclusion The major features of Marinesco Sjgren syndrome were growth deficiency and mental retardation,congenital cataracts, cerebellar ataxia, etc.Skull MRI might be helpful in the early diagnosis of the disorders.