Leigh Syndrome : Two cases report
Journal of the Korean Academy of Rehabilitation Medicine
; : 406-408, 2006.
Article
in Ko
| WPRIM
| ID: wpr-723319
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Ataxia
/
Spinal Cord
/
Brain
/
Magnetic Resonance Imaging
/
Leigh Disease
/
Cerebral Palsy
/
Ophthalmoplegia
/
Dyskinesias
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Siblings
/
Diagnosis
Type of study:
Diagnostic_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Male
Language:
Ko
Journal:
Journal of the Korean Academy of Rehabilitation Medicine
Year:
2006
Type:
Article