PDF(Pubmed)
Abstract：
Activating mutation of PIK3CA is linked with cases of overgrowth syndromes and belongs to the PIK3CA-related overgrowth spectrum (PROS). Mutations in this gene are associated with vascular malformations, brain abnormalities, and an increased risk for certain tumors. We report the case of a newborn girl, preterm at 34 weeks of gestation, referred to our center for atypical necrotizing enterocolitis (NEC). At laparotomy, the appearance of the intestinal tract was described as puffy, cauliflower-like with a dark purplish coloration. Subsequently, the colostomy was described as having a consistent proliferative appearance. Medical treatment with sirolimus resulted in minimal improvement. There are no reported cases in the literature of association between NEC and PIK3CA mutation. It is possible that PIK3CA mutation, including the related vascular anomalies, plays a role in the pathogenesis of NEC with this condition.
摘要：
PIK3CA的激活突变与过度生长综合征的病例有关，属于PIK3CA相关的过度生长谱（PROS）。这个基因的突变与血管畸形有关,大脑异常,和某些肿瘤的风险增加。我们报道了一个新生女孩的病例,妊娠34周时早产,我们的非典型坏死性小肠结肠炎中心（NEC）。在剖腹手术中，肠道的外观被描述为浮肿，花椰菜状，有深色紫色。随后，结肠造口术被描述为具有一致的增殖外观。西罗莫司的药物治疗导致最小的改善。文献中没有报道NEC和PIK3CA突变之间的关联。可能是PIK3CA突变,包括相关的血管异常,在NEC的发病机制中起作用。
