A Case of progressive elevation of serum gamma-GTP level in ataxia-telangiectasia.
- Author:
Myoung Hoon SONG
1
;
Eun Joo KIM
;
Tae Jung SUNG
;
Seon Hee SHIN
;
Kon Hee LEE
;
Hong Dae KIM
Author Information
1. Department of Pediatrics, Kangnam Sacred Heart Hospital College of Medicine, Hallym University, Seoul, Korea. pedlee@hallym.or.kr
- Publication Type:Case Report
- Keywords:
Ataxia-telagiectasia;
Cerebellar atrophy;
Gamma-GTP
- MeSH:
alpha-Fetoproteins;
Ataxia;
Ataxia Telangiectasia*;
Atrophy;
Brain;
Child;
Eye Movements;
Female;
Guanosine Triphosphate;
Humans;
Immunoglobulin A;
Magnetic Resonance Imaging;
Radiation, Ionizing;
Respiratory Tract Infections;
Telangiectasis;
Wheelchairs
- From:
Journal of the Korean Child Neurology Society
2006;14(2):363-368
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
