A Case of progressive elevation of serum gamma-GTP level in ataxia-telangiectasia / 대한소아신경학회지
Journal of the Korean Child Neurology Society
; (4): 363-368, 2006.
Article
em Ko
| WPRIM
| ID: wpr-121298
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Radiação Ionizante
/
Infecções Respiratórias
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Ataxia
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Atrofia
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Telangiectasia
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Cadeiras de Rodas
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Encéfalo
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Imunoglobulina A
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Ataxia Telangiectasia
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Imageamento por Ressonância Magnética
Limite:
Child
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Female
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Humans
Idioma:
Ko
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2006
Tipo de documento:
Article