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Case Reports in Pathology
Volume 2018, Article ID 6829586, 4 pages
https://doi.org/10.1155/2018/6829586
Case Report

Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome

1Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA
2Department of Pathology, Columbia University Medical Center, New York, NY, USA

Correspondence should be addressed to Surasak Puvabanditsin; moc.loa@1kasarus

Received 14 September 2017; Accepted 28 December 2017; Published 29 January 2018

Academic Editor: Adriana Handra-Luca

Copyright © 2018 Surasak Puvabanditsin et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.