title: Macrothrombocytopenia With Döhle Body-Like Granulocyte Inclusions: A Case Report of May-Hegglin Anomaly in a 33-Year-Old White Woman With an Update on the Molecular Findings of MYH9-Related Disease.
abstract: A 33-year-old white woman arrived at the hospital to undergo a hysterectomy due to uterine fibroids. Blood smear review identified macrothrombocytopenia and Döhle body-like cytoplasmic leukocyte inclusions. Genetic testing identified a mutation in exon 39 of the myosin heavy chain gene (MHY9; OMIM 160775), which confirmed the diagnosis of May-Hegglin anomaly. May-Hegglin anomaly is one of a spectrum of MYH9 disorders that also includes Sebastian, Epstein, and Fechtner syndromes. Herein, we describe the clinical and laboratory presentation of a patient with May-Hegglin anomaly and provide an update on the molecular findings and a discussion of the genotypic-phenotypic correlations in this potentially underdiagnosed disorder.
authors.affiliation: Department of Pathology, Virginia Mason Medical Center, Seattle, WA smruhoy@gmail.com.
authors.forename: Steven M
authors.initials: SM
authors.lastname: Ruhoy
authors.affiliation: Department of Laboratory Medicine, University of Washington, Seattle, WA.
authors.forename: Amanda
authors.initials: A
authors.lastname: Yates
mesh_terms: D000328:Adult; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000473:pathology*; D006801:Humans; D008853:Microscopy; D020409:Molecular Motor Proteins / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D009504:Neutrophils / Q000473:pathology; D013921:Thrombocytopenia / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains
keywords: Döhle body; MYH9-related disease; May-Hegglin; blood smear; giant platelets; granulocyte inclusions; macrothrombocytopenia