Wiskott-Aldrich syndrome without mean platelet volume reduction: a case report
10.3760/cma.j.issn.1007-9408.2018.11.011
- VernacularTitle:不伴有血小板体积缩小的Wiskott-Aldrich综合征一例
- Author:
Nijiati NASIMAN
1
;
Xianfeng LIU
;
Chaoying YAN
Author Information
1. 吉林大学白求恩第一医院新生儿科
- Keywords:
Wiskott-Aldrich syndrome;
Thrombocytopenia;
Infant,newborn
- From:
Chinese Journal of Perinatal Medicine
2018;21(11):772-774
- CountryChina
- Language:Chinese
-
Abstract:
We reported a case of full-term male neonate who was diagnosed with Wiskott-Aldrich syndrome(WAS) characterized by eczema, persistent thrombocytopenia and gastrointestinal bleeding (hematochezia). Serial blood tests showed decreased platelet count without platelet volume reduction. Treatment with human immunoglobulin and platelet transfusion turned out to be ineffective. A heterozygous mutation (c.121c>T) in WA S gene was detected. Moreover, his mother also had heterozygous mutation at the corresponding loci and was confirmed as a carrier. WAS should be considered in neonates presenting with unexplained thrombocytopenia even without mean platelet volume reduction and obvious immune deficiency.
