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KMID : 0391520060140020363
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Journal of the Korean Child Neurology Society
2006 Volume.14 No. 2 p.363 ~ p.368
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A Case of progressive elevation of serum gamma-GTP level in ataxia-telangiectasia.
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Song Myoung-Hoon
Kim Eun-Joo
Sung Tae-Jung
Shin Seon-Hee
Lee Kon-Hee
Kim Hong-Dae
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Abstract
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Ataxia-telangiectasia is an autosomal recessive disorders characterized by cerebellar ataxis, oculocutaneous telangiectasia and frequent respiratory infections due to immunoincompetence. Ataxia usually appear by age of 2 years with most patients need wheelchairs for morbility by early teenage. Speech and eye movements are also affected. Other important features are immunodeficiency, a high level of serum alpha-fetoprotein concentration, growth retardation, telangiectasia and a very high risk of a lymphoid tumor. Patients also show an increased sensitivity to ionizing radiation. We report a case of a 7-year-old girl who had ataxic gate, conjunctival telangiectasia, and frequent upper respiratory infection. Her alpha-fetoprotein was elevated and the serum IgA was decreased. The brain MRI showed prominent cerebellar atrophy. From the 1 st year of life to death, the level of serum gamma- GTP became steadily elevated up to 10 times of a normal level.
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KEYWORD
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Ataxia-telangiectasia, Cerebellar atrophy, Gamma-GTP
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