Korean J Pediatr Hematol Oncol.
2003 Apr;10(1):99-104.
MYH9-related Disorder in a Family: Autosomal Dominant Epstein Giant Platelet Syndrome
- Affiliations
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- 1Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. hoonkook@chonnam.ac.kr
- 2Department of Pediatrics, Seonam University Hospital Medical School, Korea.
- 3Department of Microbiology, Chungnam National University College of Medicine, Taejon, Korea.
Abstract
- The term MYH9-related disorders indicates a group of autosomal dominant illnesses, formerly known as May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome and Epstein syndrome, caused by mutations of MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (NMMHC-IIA). We experienced a family with macrothrombocytopenia without leukocyte inclusion. A 5-year-old girl was found to have macrothrombocytopenia incidentally. Her father also had macrothromtocytopenia, but had been suffering from hearing loss and chronic renal failure. Meticulous search by light and electron microscopy failed to detect leukocyte inclusions. To our knowledge, these cases seem to be the first description of autosomal dominant Epstein giant platelet syndrome in Korea.
