Neonatal Glanzmann thrombasthenia: a case report and literature review
10.3760/cma.j.issn.2096-2932.2023.08.007
- VernacularTitle:新生儿血小板无力症1例并文献复习
- Author:
Lirong SHEN
1
;
Yan CAI
;
Qin ZHANG
;
Zongtai FENG
;
Minzhen GU
;
Yingying YUAN
;
Sannan WANG
;
Zuming YANG
Author Information
1. 南京医科大学附属苏州医院，苏州市立医院新生儿科，苏州 215002
- Keywords:
Glanzmann thrombasthenia;
Newborn;
ITGA2B;
ITGB3;
Case report
- From:Chinese Journal of Neonatology
2023;38(8):484-488
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To study the clinical features and genotypes of neonatal Glanzmann thrombasthenia(NGT).Methods:A male neonate with NGT admitted to the Department of Neonatology of our hospital was retrospectively reviewed. CNKI, Wangfang database, VIP, the Chinese Medical Journal Full Text database, PubMed and Embase database were searched using key words '(neonate OR newborn) AND (Glanzmann thrombasthenia)' both in English and Chinese. The clinical features and genotypes of NGT were summarized and analyzed.Results:A male full-term neonate was admitted to our hospital for mass on the forehead and ecchymosis and petechiae on the body within half an hour after birth. He gradually developed subgaleal hemorrhage and severe anemia. Platelet count, mean platelet volume and coagulation functions were normal. The platelet aggregation test indicated decreased platelet aggregation rate induced by arachidonic acid and adenosine diphosphate. Genetic testing revealed two heterozygous mutations in the patient's ITGA2B gene: NM_000419.4: c.886G>A(p.Gly296Arg) and NM_000419.4: c.2855dup(p.Phe953Valfs*83). A total of 42 literature involving 44 patients (our case included) with NGT were retrieved. 33 cases (75.0%) of NGT showed ecchymosis or petechiae on the first day after birth. For 13 cases with detailed information, 5 cases with severe anemia were given erythrocyte and plasma transfusion and platelet transfusion was given in 1 case. 4 cases had homozygous variants and 4 cases showed compound heterozygous variants. 10 cases had follow-up records, including 2 cases without any bleeding and 8 cases with varying degrees of bleeding during follow-up. No deaths were reported.Conclusions:Neonates with ecchymosis and petechiae in the early postnatal period should be suspected of NGT. Blood transfusion is preferred when the indication for transfusion is met.
