Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome

Case Rep Pathol. 2018 Jan 29:2018:6829586. doi: 10.1155/2018/6829586. eCollection 2018.

Abstract

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 c.184T>G (p.Tyr62Asp) pathogenic variant in PTPN11. 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.

Publication types

  • Case Reports