A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome.
J Pediatr Hematol Oncol
; 40(8): e547-e549, 2018 11.
Article
en En
| MEDLINE
| ID: mdl-29620677
ABSTRACT
Ataxia-telangiectasia (A-T) is a multisystem disease caused by a genetic defect located on the long arm of chromosome 11 (11p22-23). The gene defect results in the loss of A-T-mutated protein, subsequently leading to unrepaired DNA fractures and defects in the signal transduction pathway. As a result, characteristic findings arise, including recurrent sinopulmonary infections, hypersensitivity against ionized radiation with the tendency to develop cancer related to progressive cerebellar ataxia, pathognomonic oculocutaneous telangiectasias, varying degrees of humoral and cellular immunodeficiency, and infertility. This case report presents a 3-year-old male patient with A-T who developed hemophagocytic syndrome. To the best of our knowledge, no such case has been previously reported.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ataxia Telangiectasia
/
Linfohistiocitosis Hemofagocítica
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr Hematol Oncol
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2018
Tipo del documento:
Article