THALAMIC HYPERDENSITY - IS IT A DIAGNOSTIC MARKER FOR SANDHOFF DISEASE

被引：11

作者：

CALISKAN, M

OZMEN, M

BECK, M

APAK, S

机构：

[1] UNIV MAINZ,DEPT PEDIAT,W-6500 MAINZ,GERMANY

[2] ISTANBUL UNIV,FAC MED,DEPT PEDIAT,DIV PEDIAT NEUROL,ISTANBUL,TURKEY

来源：

BRAIN & DEVELOPMENT | 1993年 / 15卷 / 05期

关键词：

SANDHOFF DISEASE; THALAMIC HYPERDENSITY;

D O I：

10.1016/0387-7604(93)90128-U

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Sandhoff disease, also known as GM2-gangliosidoses variant 0, is caused by the deficient activity of both hexosaminidase A and hexosaminidase B. We report a 15-month-old boy diagnosed with Sandhoff disease by demonstrating the enzyme deficiency. The interesting finding was bilateral thalamic hyperdensity on the CT scan. The hyperdensity in all previously published cases was homogeneous and symmetric and limited to the thalamus; the cause still remains unknown. We suggest that the finding of dense thalami may be useful as a specific diagnostic criterion for the GM2-gangliosidoses and especially for Sandhoff disease.

引用

页码：387 / 388

页数：2