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
in En
| LILACS
| ID: biblio-839284
Responsible library:
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.
Key words
Full text:
1
Index:
LILACS
Main subject:
Chediak-Higashi Syndrome
/
Frameshift Mutation
Type of study:
Diagnostic_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
Braz. j. med. biol. res
/
Rev. bras. pesqui. méd. biol
Journal subject:
BIOLOGIA
/
MEDICINA
Year:
2017
Type:
Article