A Case of Leigh Syndrome with Typical MRI and MRS Findings

J Korean Neurol Assoc > Volume 22(5); 2004 > Article

Journal of the Korean Neurological Association 2004;22(5): 545-547.

전형적인 MR 소견을 보인 Leigh 증후군 1예

강정우, 김정찬 조필자 조정희* 김승민* 선우일남*

국립의료원 신경과, 연세대학교 의과대학 신경과학교실*

A Case of Leigh Syndrome with Typical MRI and MRS Findings

Jung Woo Kang

Department of Neurology, National Medical Center, Seoul; Department of Neurology, Yonsei University College of Medicine*, Seoul, Korea

Abstract

Leigh syndrome (LS) is a genetically and clinically heterogeneous disorder caused by metabolic defects affecting lactate/pyruvate metabolism. The consequence of the metabolic defects are decreased amounts of APT and basic cell energy productions of the nervous system. In LS, several mutations have been reported in both the nuclear and the mitochondrial genome. Here, we report a 26-year-old woman clinically diagnosed with LS having characteristic brain MR and MRS abnormalities but without known definite pathogenetic mitochondrial DNA mutations. Key Words: Leigh syndrome, Mitochondrial disorders