# Eosinophilic gastroenteritis in a 14-year-old patient with Noonan syndrome with a PTPN11 variation: a case report

## TL;DR

A 14-year-old girl with Noonan syndrome and a PTPN11 gene variation was diagnosed with eosinophilic gastroenteritis, a first in medical literature.

## Contribution

This is the first reported case linking Noonan syndrome with eosinophilic gastroenteritis.

## Key findings

- The patient had a PTPN11 gene variation and was diagnosed with eosinophilic gastroenteritis.
- Eosinophilic gastroenteritis symptoms were managed with antihistamines and a leukotriene antagonist.
- The PTPN11 gene variation may contribute to eosinophilic disorders via RAS/MAPK pathway activation.

## Abstract

Noonan syndrome has a wide range of symptoms due to dysregulation of the RAS/MAPK pathway with several gene variations, including the PTPN11 gene. There are currently no case reports of Noonan syndrome with eosinophilic gastroenteritis.

A 14-year-old Japanese girl was clinically diagnosed with Noonan syndrome. She had intermittent abdominal pain and vomiting from 10 years old. The patient was diagnosed with eosinophilic gastroenteritis on the basis of the pathological finding of multiple foci with > 20 eosinophils/high power field in the mucosal lamina propria of the colon by endoscopy at 12 years old. Vomiting and abdominal pain are currently being controlled by antihistamines and leukotriene antagonist therapy. Genetic testing showed the missense variation p.Ala72Gly in the PTPN11 gene.

The pathogenesis of eosinophilic gastroenteritis is similar to that of other allergic inflammatory diseases, such as bronchial asthma. The cause of eosinophilic gastroenteritis is multifactorial, including genetic and environmental factors. The PTPN11 gene variations are suggested to promote eosinophilic disorders by leading to the activation of the RAS/MAPK pathway. This activation subsequently results in the production of interleukin-5, which plays a crucial role in the pathogenesis of eosinophilic gastroenteritis. The relationship between eosinophilic gastroenteritis and the PTPN11 gene has not yet been reported.

We herein present the first known case of eosinophilic gastroenteritis in Noonan syndrome with a variation in the PTPN11 gene. The relationship between Noonan syndrome and eosinophilic gastroenteritis remains unknown; therefore, additional case reports of Noonan syndrome with eosinophilic gastroenteritis are required to elucidate this potential relationship.

Noonan syndrome, a genetic disease with a number of symptoms, has not been reported complicated with eosinophilic gastroenteritis. We report the first case eosinophilic gastroenteritis in a female patient with Noonan syndrome with a missense variation in the PTPN11 gene.