| A Case of progressive elevation of serum gamma-GTP level in ataxia-telangiectasia. |
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Myoung Hoon Song, Eun Joo Kim, Tae Jung Sung, Seon Hee Shin, Kon Hee Lee, Hong Dae Kim |
1Department of Pediatrics, Kangnam Sacred Heart Hospital College of Medicine, Hallym University, Seoul, Korea. pedlee@hallym.or.kr
2Department of Radiology, Kangnam Sacred Heart Hospital, College of Medicine, Hallym University, Seoul, Korea. |
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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. |
| Key Words:
Ataxia-telagiectasia, Cerebellar atrophy, Gamma-GTP |
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