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Report of a Young Girl With MYH9 Mutation and Review of the Literature

Landi, Daniel MD; Lockhart, Evelyn MD; Miller, Sara E. PhD; Datto, Michael MD, PhD; Rehder, Catherine PhD; Kanaly, Angela MS; Thornburg, Courtney D. MD, MS

Journal of Pediatric Hematology/Oncology: October 2012 - Volume 34 - Issue 7 - p 538–540
doi: 10.1097/MPH.0b013e3182678fc9
Clinical and Laboratory Observations

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:

Received November 21, 2011

Accepted June 30, 2012

Copyright © 2012 Wolters Kluwer Health, Inc. All rights reserved.