Child with sitosterolemia initially presenting with hemolytic anemia and thrombocytopenia: a case repore and literrature review
10.3760/cma.j.cn121090-20230915-0068
- VernacularTitle:以溶血性贫血及血小板减少为首发临床表现的儿童谷固醇血症1例报告并文献复习
- Author:
Ziyue ZHAO
1
;
Jinying LI
;
Weihua HUANG
;
Liling QIU
;
Baohua QIAN
;
Zhanshan ZHA
Author Information
1. 海军军医大学第一附属医院，全军儿童溶血性贫血研究创新基地，上海 200433
- From:
Chinese Journal of Hematology
2024;45(1):90-93
- CountryChina
- Language:Chinese
-
Abstract:
This article focuses on a case study of sitosterolemia in a child who initially presented with hemolytic anemia and thrombocytopenia. Sitosterolemia is a rare autosomal recessive lipid metabolism disorder, difficult to diagnose due to its non-typical clinical manifestations. The 8-year-old patient was initially misdiagnosed with pyruvate kinase deficiency. Comprehensive biochemical and molecular biology analyses, including gene sequencing, eventually led to the correct diagnosis of sitosterolemia. This case highlights the complexity and diagnostic challenges of sitosterolemia, emphasizing the need for increased awareness and accurate diagnosis in patients presenting with similar symptoms.
