A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase
Rev. bras. pesqui. méd. biol
; Braz. j. med. biol. res;50(4): e5727, 2017. tab, graf
Article
em En
| LILACS
| ID: biblio-839284
Biblioteca responsável:
BR1.1
ABSTRACT
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous high fever, hypopigmentation of the skin, enlarged lymph nodes, hepatosplenomegaly and lung infection. He was diagnosed with CHS by gene sequencing, and had entered the accelerated phase. After 8 weeks of therapy, the boy had remission and was prepared for allogenic stem cell transplantation.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Síndrome de Chediak-Higashi
/
Mutação da Fase de Leitura
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Braz. j. med. biol. res
/
Rev. bras. pesqui. méd. biol
Assunto da revista:
BIOLOGIA
/
MEDICINA
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
China
País de publicação:
Brasil