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.
Artículo
en Coreano
| WPRIM
| ID: wpr-121298
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Radiación Ionizante
/
Infecciones del Sistema Respiratorio
/
Ataxia
/
Atrofia
/
Telangiectasia
/
Silla de Ruedas
/
Encéfalo
/
Inmunoglobulina A
/
Ataxia Telangiectasia
/
Imagen por Resonancia Magnética
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Año:
2006
Tipo del documento:
Artículo
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