Authors: S Michelini ( ) , M Cardone ( ) , M Haag O Agga ( ) , A Bruson ( ) , PE Maltese ( ) , A Bonizzato ( ) , M Bertelli ( )
Emberger syndrome, or primary lymphedema with myelodysplasia, is a severe rare disease characterized by early primary lymphedema and blood anomalies including acute childhood leukemia. The syndrome is associated with heterozygous mutations in the GATA2 gene. We report on a 13-year-old boy who developed lymphedema of the right lower limb at age 6 years which was accompanied by severe panleukopenia and repeated episodes of erysipelas. The suspicion of Emberger syndrome was confirmed by detection of a new germinal line GATA2 mutation c.414_417del, p.Ser139Cysfs*78. Clinical treatment included a bone marrow transplant from the father. This case is one of a very limited number of Emberger syndrome cases documented in the literature, and genetic testing proved fundamental for definition of the condition and its association with a de novo mutation in the GATA2 which is reported here for the first time.
Keywords: Emberger syndrome, primary lymphedema, GATA2, de novo mutation
How to Cite: Michelini, S. , Cardone, M. , Haag O Agga, M. , Bruson, A. , Maltese, P. , Bonizzato, A. & Bertelli, M. (2016) “A RARE CASE OF EMBERGER SYNDROME CAUSED BY A DE NOVO MUTATION IN THE GATA2 GENE”, Lymphology. 49(1).