J Korean Acad Rehabil Med.
2006 Aug;30(4):406-408.
Leigh Syndrome : Two cases report
- Affiliations
-
- 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
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.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Leigh Syndrome Mimicking Wernicke's Encephalopathy: A Case Report
- Cardiac Arrest as the Initial Presentation of Leigh Syndrome Associated with Novel NDUFS1 Mutation
- Serial MRI Findings in a Clinically Diagnosed Adult Onset Leigh Syndrome
- Arterial hypertension in Leigh syndrome due to m.13513Gā>āA is multicausal, requiring an extensive search to identify its pathphysiology
- A Case of Leigh Syndrome with Typical MRI and MRS Findings
