Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome

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 v...

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Autores principales: Puvabanditsin, Surasak, Abellar, Rosanna, Madubuko, Adaora, Mehta, Rajeev, Walzer, Lauren
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833241/
https://www.ncbi.nlm.nih.gov/pubmed/29670795
http://dx.doi.org/10.1155/2018/6829586
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author Puvabanditsin, Surasak
Abellar, Rosanna
Madubuko, Adaora
Mehta, Rajeev
Walzer, Lauren
author_facet Puvabanditsin, Surasak
Abellar, Rosanna
Madubuko, Adaora
Mehta, Rajeev
Walzer, Lauren
author_sort Puvabanditsin, Surasak
collection PubMed
description 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.
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spelling pubmed-58332412018-04-18 Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome Puvabanditsin, Surasak Abellar, Rosanna Madubuko, Adaora Mehta, Rajeev Walzer, Lauren Case Rep Pathol Case Report 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. Hindawi 2018-01-29 /pmc/articles/PMC5833241/ /pubmed/29670795 http://dx.doi.org/10.1155/2018/6829586 Text en Copyright © 2018 Surasak Puvabanditsin et al. https://creativecommons.org/licenses/by/4.0/ 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.
spellingShingle Case Report
Puvabanditsin, Surasak
Abellar, Rosanna
Madubuko, Adaora
Mehta, Rajeev
Walzer, Lauren
Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome
title Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome
title_full Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome
title_fullStr Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome
title_full_unstemmed Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome
title_short Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome
title_sort pulmonary vasculitis and a horseshoe kidney in noonan syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833241/
https://www.ncbi.nlm.nih.gov/pubmed/29670795
http://dx.doi.org/10.1155/2018/6829586
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