Case report: Noonan syndrome with protein-losing enteropathy

Yang Ou; Jun-Chao Yuan; Yao Zheng; Jin-Man Zhang; Tian He; Zhi Liang; Yi-Kun Zhou

doi:10.3389/fgene.2023.1237821

Case report: Noonan syndrome with protein-losing enteropathy

Front Genet. 2023 Sep 27:14:1237821. doi: 10.3389/fgene.2023.1237821. eCollection 2023.

Authors

Yang Ou^#¹, Jun-Chao Yuan^#¹, Yao Zheng¹, Jin-Man Zhang², Tian He³, Zhi Liang⁴, Yi-Kun Zhou¹

Affiliations

¹ Department of Endocrinology and Metabolism, First People's Hospital of Yunnan Province, The Kunhua Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
² Department of Medical Genetics, First People's Hospital of Yunnan Province, The Kunhua Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
³ Department of Gastroenterology, First People's Hospital of Yunnan Province, The Kunhua Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
⁴ Department of Information Center, First People's Hospital of Yunnan Province, The Kunhua Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.

^# Contributed equally.

Abstract

Background: Noonan syndrome (NS) is characterized by typical facial features, short stature, congenital heart defects and other comorbidities. Lymphedema and chylous pleural effusions are also common in NS, but protein-losing enteropathy (PLE) is rarely reported. Case presentation: We present the case of a 19-year-old Chinese woman presenting with PLE. Small intestine biopsy showed obvious expansion of lymphatic vessels. The gene mutation results of the patient indicated a c.184T>G missense mutation (p.Tyr62Asp) in the PTPN11 gene (NM_002834.3). Conclusion: NS accompanied by PLE is not common, but hypoproteinemia attributable to PLE may be more common in patients with NS than previously thought. It remains uncertain whether mutation of the PTPN11 gene is related to PLE, indicating that further research is needed.

Keywords: Noonan syndrome; PTPN11; intestinal lymphatic vessels; lymphatic abnormalities; protein-losing enteropathy.

Publication types

Case Reports