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 ofMYH9-Related Disease
| Autor: | Amanda Yates, Steven M. Ruhoy |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
Pathology medicine.medical_specialty Neutrophils Uterine fibroids Hearing Loss Sensorineural medicine.medical_treatment Clinical Biochemistry 030204 cardiovascular system & hematology Granulocyte Myh9 related disease 03 medical and health sciences Case Studies 0302 clinical medicine Humans Medicine Genetic testing Microscopy Hysterectomy Myosin Heavy Chains medicine.diagnostic_test business.industry Molecular Motor Proteins Biochemistry (medical) medicine.disease Thrombocytopenia White (mutation) medicine.anatomical_structure 030220 oncology & carcinogenesis Döhle bodies May–Hegglin anomaly Female business |
| Zdroj: | Laboratory Medicine. 47:246-250 |
| ISSN: | 1943-7730 0007-5027 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|