琥珀酸半醛脱氢酶缺乏症中苍白球和齿状核的选择性受累。

Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase deficiency.

作者信息

Ziyeh Sargon, Berlis Ansgar, Korinthenberg Rudolf, Spreer Joachim, Schumacher Martin

机构信息

Section of Neuroradiology, Department of Neurosurgery, University of Freiburg, 79106 Freiburg, Germany.

出版信息

Pediatr Radiol. 2002 Aug;32(8):598-600. doi: 10.1007/s00247-002-0717-4. Epub 2002 May 1.

DOI:10.1007/s00247-002-0717-4

PMID:12136353

Abstract

MRI findings in a 12-year-old boy with succinic semialdehyde dehydrogenase (SSADH) deficiency are described. SSADH deficiency is a rare neurometabolic disorder of GABA catabolism. The clinical diagnosis is difficult and the disease is underdiagnosed. MRI showed an unusual pattern with hyperintense signal in the globus pallidus and cerebellar dentate nucleus in T2-weighted images. The remaining basal ganglia and white matter were normal. This is the second report showing this particular pattern of pallidal-dentate nucleus involvement, which might be suggestive for SSADH deficiency.

摘要

本文描述了一名患有琥珀酸半醛脱氢酶（SSADH）缺乏症的12岁男孩的MRI表现。SSADH缺乏症是一种罕见的γ-氨基丁酸（GABA）分解代谢的神经代谢紊乱疾病。临床诊断困难，该疾病常被漏诊。MRI显示出一种不寻常的模式，在T2加权图像中苍白球和小脑齿状核呈高信号。其余基底神经节和白质正常。这是第二份显示苍白球-齿状核受累这种特殊模式的报告，这可能提示SSADH缺乏症。