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Merging evans syndrome with mucopolysaccharidosis type II: a case report
Xinrui Wang1, Jing Zhang1, Yanhui Tang2
1Department of Pediatrics, Children Hematological Oncology and Birth Defects Laboratory, The Affiliated Hospital of Southwest Medical University, Sichuan Clinical Research Center for Birth Defects, Luzhou, Sichuan, China.
This study details a rare case of Mucopolysaccharidosis type II (MPS II) and Evans syndrome (ES) co-occurrence in a toddler. Hematopoietic stem cell transplantation (HSCT) proved effective, normalizing enzyme activity and resolving ES.
Area of Science:
- Genetics
- Metabolic Disorders
- Immunology
Background:
- Mucopolysaccharidosis type II (MPS II) is a rare X-linked metabolic disorder.
- Evans syndrome (ES) is an autoimmune condition causing anemia and thrombocytopenia.
- Concurrent MPS II and ES is exceptionally rare, particularly in young children.
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