Leigh Syndrome : Two cases report.
- Author:
Zee Ihn LEE
1
;
Hea Woon PARK
;
Chul Hyun KIM
;
Yong Bum LEE
Author Information
1. Department of Rehabilitation Medicine, Catholic University of Daegu College of Medicine, Korea.
- Publication Type:Case Report
- Keywords:
Leigh syndrome
- MeSH:
Ataxia;
Brain;
Cerebral Palsy;
Child, Preschool;
Diagnosis;
Dyskinesias;
Female;
Globus Pallidus;
Humans;
Leigh Disease*;
Magnetic Resonance Imaging;
Male;
Muscle Hypotonia;
Ophthalmoplegia;
Siblings;
Spinal Cord
- From:Journal of the Korean Academy of Rehabilitation Medicine
2006;30(4):406-408
- CountryRepublic of Korea
- Language:Korean
-
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 T2WI. We reported these cases with a brief review of the related literature.
