Hematopoietic stem cell transplantation of an adolescent with neurological manifestations of homozygous missense PRF1 mutation.
Pediatr Blood Cancer
; 61(12): 2313-5, 2014 Dec.
Article
em En
| MEDLINE
| ID: mdl-25110876
ABSTRACT
Individuals with biallelic truncating PRF1 mutations typically present with fulminant early-onset familial hemophagocytic lymphohistiocytosis (FHL). We report a 19-year-old male with a 5-year history of recurrent fever and headaches progressing to refractory seizures. Brain imaging revealed multiple ring enhancing lesions. Laboratory investigations demonstrated that the patient displayed defective lymphocyte cytotoxicity and carried a homozygous missense PRF1 mutation, c.394G > A (p.Gly132Arg). The patient was successfully treated with chemo-immunotherapy followed by matched related allogeneic hematopoietic stem cell transplantation (HSCT). Our findings demonstrate that prompt HSCT of late-onset FHL with primarily neurological manifestation can reverse central nervous system symptoms and improve long-term outcome.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Encefalopatias
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Transplante de Células-Tronco Hematopoéticas
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Linfo-Histiocitose Hemofagocítica
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Perforina
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Anticorpos Monoclonais Murinos
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Mutação
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Antineoplásicos
Tipo de estudo:
Etiology_studies
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Prognostic_studies
Limite:
Adolescent
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Female
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Humans
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Male
Idioma:
En
Revista:
Pediatr Blood Cancer
Assunto da revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Jordânia