Danby C S, Allen L, Moharir M D, Weitzman S, Dumont T
Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, USA.
J Pediatr Adolesc Gynecol. 2013 Apr;26(2):e43-5. doi: 10.1016/j.jpag.2012.09.003. Epub 2013 Jan 9.
Ataxia-telangiectasia is a multisystem, life-limiting, recessively inherited genetic disorder caused by mutations in the Ataxia-telangiectasia mutated gene. It is characterized by the onset of changes in neurological and immunological development, organ maturation in childhood, as well as a high incidence of malignancies.
We describe a case of an 11-year-old girl with a history of progressive ataxia and new finding of bilateral pelvic masses. Given an elevated alpha-fetoprotein, the pre-operative working diagnosis was a malignant germ cell tumor. Final ovarian pathology revealed a non-Hodgkin B-cell lymphoma with Burkitt-like morphology.
We present the first case of a primary ovarian non-Hodgkin B-cell lymphoma in a child with Ataxia-telangiectasia.
共济失调毛细血管扩张症是一种多系统、危及生命的隐性遗传性疾病，由共济失调毛细血管扩张症突变基因的突变引起。其特征是在儿童期出现神经和免疫发育变化、器官成熟改变，以及恶性肿瘤的高发病率。
我们描述了一名11岁女孩的病例，她有进行性共济失调病史，新发现双侧盆腔肿块。鉴于甲胎蛋白升高，术前初步诊断为恶性生殖细胞肿瘤。最终卵巢病理显示为具有伯基特样形态的非霍奇金B细胞淋巴瘤。
我们报告了第一例患有共济失调毛细血管扩张症的儿童原发性卵巢非霍奇金B细胞淋巴瘤病例。
