Epstein syndrome:a case report and literature review
Xiao Qun
Ma Jianjuan
Yang Yuting
Jin Jiao
Huang Jing
Abstract：Epstein syndrome is a non-muscle myosin heavy chain 9(MYH9)-related disease with throm-bocytopenia.It is caused by defects in the MYH9 gene,which encodes the non-muscle myosin heavy chain Ⅱ A protein.The common clinical manifestation is bleeding caused by thrombocytopenia,and the platelet recovery is not obvious after blood transfusion and immunotherapy.In the process of diagnosis and treatment,the diagnosis should be made as soon as possible according to the cell morphology and gene detection results to avoid delayed diagnosis and misdiagnosis.In this paper,the clinical data and genetic test results of a child with Epstein syndrome were retrospectively analyzed,and the related literature was reviewed to further improve the understanding of Epstein syndrome.The patient was a 2-year-old boy with no clinical manifestations of bleeding.Routine blood test showed thrombocytopenia,and the peripheral blood smear and bone marrow cytology showed giant platelets without neutrophil inclusion bodies.Gene sequencing showed a MYH9 gene mutation,exon c.287C＞T(p.Ser96Leu).The patient was clinically diagnosed with Epstein syndrome,and his parents were normal wild type.For patients with incomplete clinical symptoms at the time of diagnosis,relevant complications and comorbidities should be clearly informed.At present,there is no clear and effective treatment for this disease,and unrelated hematopoietic stem cell transplantation has been used in clinical treatment,but the efficacy is not clear.Most children need to be followed up regularly.
Keywords：Epstein syndromeNon-muscle myosin heavy chain 9 geneGene defectBone marrow cytology examination
Publication Date：2025-05-18
Online Publishing Date：2026-09-14(First online date of this platform, not the publication date of the document)
Pages：4( 762-765 )