Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome
Joint Authors
Puvabanditsin, Surasak
Mehta, Rajeev
Abellar, Rosanna
Madubuko, Adaora
Walzer, Lauren
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-01-29
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Puvabanditsin, Surasak& Abellar, Rosanna& Madubuko, Adaora& Mehta, Rajeev& Walzer, Lauren. 2018. Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome. Case Reports in Pathology،Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1148857
Modern Language Association (MLA)
Puvabanditsin, Surasak…[et al.]. Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome. Case Reports in Pathology No. 2018 (2018), pp.1-4.
https://search.emarefa.net/detail/BIM-1148857
American Medical Association (AMA)
Puvabanditsin, Surasak& Abellar, Rosanna& Madubuko, Adaora& Mehta, Rajeev& Walzer, Lauren. Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome. Case Reports in Pathology. 2018. Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1148857
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148857
