Leigh Syndrome : Two cases report.

, Lee, Zee Ihn; , Park, Hea Woon; , Kim, Chul Hyun; , Lee, Yong Bum

Case Report

Journal of the Korean Academy of Rehabilitation Medicine 2006;30(4):406-408.

Lee, Zee Ihn , Park, Hea Woon , Kim, Chul Hyun , Lee, Yong Bum

¹Department of Rehabilitation Medicine, Catholic University of Daegu College of Medicine, Korea.
²Department of Rehabilitation Medicine, Kyungpook National University College of Medicine, Korea. leeyb103@hotmail.com

Leigh 증후군 ⁣증례 보고⁣

이지인, 박해운, 김철현¹, 이용범¹

대구가톨릭대학교 의과대학 재활의학교실, ¹경북대학교 의과대학 재활의학교실

Abstract

Leigh syndrome is a subacute necrotizing encephalomyelopathy of infancy or early childhood. The clinical presentation can be highly variable. The classical presentations are central hypotonia, developmental regression or arrest, ataxia, ophthalmoplegia, and abnormal respiratory pattern. Diagnosis is usually confirmed by radiologic evidence of focal, bilateral and usually symmetric lesions of the both gray and white matter in the brain and the spinal cord. We experienced 2 cases of Leigh syndrome in a brother and sister.The first case, 4 year-old boy, was misdiagnosed as a cerebral palsy initially, but after acute infection, he revealed developmental regression and abnormal movement. His disease was confirmed by typical magnetic resonance imaging findings. The second case, 1 year-old girl with nystagmus, showed bilateral symmetric high signal intensity in globus pallidus on T₂W_I. We reported these cases with a brief review of the related literature. (J Korean Acad Rehab Med 2006; 30: 406-408)

Key Words: Leigh syndrome