# Expanding the Gastrointestinal Phenotype of 10p15.3 Microdeletion Syndrome: Refractory Atypical Gastroparesis in an Adult

## TL;DR

This paper reports a rare case of atypical gastroparesis in an adult with 10p15.3 microdeletion syndrome, expanding the known gastrointestinal symptoms of this genetic disorder.

## Contribution

The study presents the first documented case of refractory atypical gastroparesis in an adult with 10p15.3 microdeletion syndrome.

## Key findings

- A 32-year-old female with 10p15.3 microdeletion syndrome was diagnosed with refractory atypical gastroparesis.
- This case expands the gastrointestinal phenotype of the syndrome beyond previously reported GERD and EOE.
- The findings suggest the need for further research on motility disorders in patients with neurodevelopmental delays.

## Abstract

10p15.3 microdeletion syndrome is a rare genetic disorder characterized by the loss of ZMYND11 and DIP2C genes, resulting in a range of neurodevelopmental delays, dysmorphic features, and gastrointestinal (GI) symptoms. The syndrome has been primarily reported in pediatric patients, and GI manifestations remain poorly studied - particularly in adults - given the limited number of reported cases. To date, only gastroesophageal reflux disease (GERD) and eosinophilic esophagitis (EOE) have been reported in adult patients. We present the first documented case of refractory atypical gastroparesis in a 32-year-old female with known 10p15.3 microdeletion syndrome. This case expands the GI phenotype associated with this rare syndrome and highlights the importance of recognizing motility disorders in patients with neurodevelopmental delays. Further studies are needed to explore the prevalence and underlying mechanisms of atypical gastroparesis in 10p15.3 microdeletion syndrome.