Michelini S, Cardone M, Haag M, Agga O, Bruson A, Maltese P E, Bonizzato A, Bertelli M
Lymphology. 2016 Mar;49(1):15-20.
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.
恩伯格综合征，即伴有骨髓发育异常的原发性淋巴水肿，是一种严重的罕见疾病，其特征为早期原发性淋巴水肿和血液异常，包括儿童急性白血病。该综合征与GATA2基因的杂合突变有关。我们报告了一名13岁男孩，他在6岁时出现右下肢淋巴水肿，伴有严重全血细胞减少和反复发作的丹毒。通过检测到一个新的胚系GATA2突变c.414_417del，p.Ser139Cysfs*78，确诊为恩伯格综合征。临床治疗包括接受来自父亲的骨髓移植。该病例是文献中记载的极少数恩伯格综合征病例之一，基因检测对于明确病情及其与GATA2基因新发突变的关联至关重要，此处首次报道该新发突变。
