MYH9 mutations cause the inherited macrothrombocytopenic syndromes of May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, collectively referred to as MYH9-related disease. We present the case of a girl with MYH9-related disease whose diagnosis was facilitated by platelet electron microscopy and MYH9 sequencing. We discuss our patient’s clinical presentation, now with 12 years of follow-up. We also discuss management and her possible prognosis given her specific MYH9 mutation.
*Department of Pediatrics, Division of Pediatric Hematology-Oncology
†Department of Pathology
‡Duke University Health Systems Clinical Molecular Diagnostics Laboratory, Duke University Medical Center, Durham, NC
The authors declare no conflict of interest.
Reprints: Courtney D. Thornburg, MD, MS, Department of Pediatrics, Division of Pediatric Hematology-Oncology, Duke University Medical Center, Box 102382, Durham, NC 27710 (e-mail: firstname.lastname@example.org).
Received November 21, 2011
Accepted June 30, 2012