The clinical and imaging features of Marinesco-Sjgren syndrome
- VernacularTitle:Marinesco-Sjgren综合征的临床及影像学特征
- Author:
En XU
;
Xiuli ZHANG
;
Jianrui YIN
- Publication Type:Journal Article
- Keywords:
Marinesco Sjgren syndrome Clinical features MRI
- From:
Journal of Clinical Neurology
2001;0(05):-
- CountryChina
- Language:Chinese
-
Abstract:
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.
