# Pediatric intestinal pseudo‐obstruction found in 3‐year‐old male with Rett‐related mutation of methyl‐CpG binding protein 2

## TL;DR

A 3-year-old boy with intestinal pseudo-obstruction and a MECP2 gene mutation shows how genetic causes can lead to rare digestive issues even with mild neurological symptoms.

## Contribution

This case report expands the clinical spectrum of MECP2-related disorders to include pediatric intestinal pseudo-obstruction.

## Key findings

- A pathogenic MECP2 variant was identified in a patient with intestinal pseudo-obstruction and mild neurological features.
- Symptoms improved with promotility agents and gastrostomy feeding.
- The case emphasizes the importance of genetic testing in diagnosing atypical Rett syndrome presentations.

## Abstract

A 3‐year‐old male with chronic abdominal distention, constipation, and severe malnutrition is diagnosed with pediatric intestinal pseudo‐obstruction (PIPO) after extensive evaluation that excluded mechanical, malabsorptive, metabolic, inflammatory, and infectious causes. Aside from speech delay, he has a normal neurologic exam. Whole exome sequencing reveals a pathogenic methyl‐CpG binding protein 2 (MECP2) variant, suggesting atypical Rett syndrome. Management includes promotility agents and a gastrostomy tube with cyclic feedings of peptide‐based formula, leading to resolution of symptoms. This case highlights the diagnostic complexity of PIPO and the need to consider genetic etiologies, including MECP2‐related disorders, even in patients with mild neurologic findings. Early genetic testing and multidisciplinary care are essential for diagnosis and management in this atypical presentation of Rett syndrome with manifestation of PIPO.