Puvabanditsin Surasak, Abellar Rosanna, Madubuko Adaora, Mehta Rajeev, Walzer Lauren
Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
Department of Pathology, Columbia University Medical Center, New York, NY, USA.
Case Rep Pathol. 2018 Jan 29;2018:6829586. doi: 10.1155/2018/6829586. eCollection 2018.
We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying pathogenic variant in . The infant eventually succumbed to respiratory failure. Bacterial and viral cultures/studies were all no growth/negative. Pulmonary capillaritis and vasculitis were noted at autopsy. This report presents a new case of Noonan syndrome with unusual associated disorders and a review of the literature.
我们报告了一名足月儿男婴,患有先天性骨髓增殖性疾病、血小板减少症、马蹄肾、因吞咽困难/前肠动力障碍继发的喂养困难以及呼吸衰竭。产前分子遗传学分析显示胎儿携带致病变异。该婴儿最终死于呼吸衰竭。细菌和病毒培养/研究均无生长/呈阴性。尸检发现肺部毛细血管炎和血管炎。本报告介绍了一例伴有不寻常相关疾病的努南综合征新病例并对文献进行了综述。