# Augmentation Cystoplasty in a Girl With Early B-cell Factor 3 (EBF3)-Related Syndrome

## TL;DR

This paper reports the first case of bladder augmentation in a girl with EBF3-related syndrome due to poor bladder compliance.

## Contribution

The first documented case of bladder augmentation in EBF3-related syndrome in the English literature.

## Key findings

- Bladder augmentation was performed in a girl with EBF3-related syndrome due to poor bladder compliance.
- The patient had failed conservative treatments like clean intermittent catheterization and anticholinergic medication.

## Abstract

Early B-cell factor 3 (EBF3)-related syndrome, also known as hypotonia, ataxia, and delayed development syndrome (HADDS), is a recently recognized neurodevelopmental disorder frequently associated with bladder dysfunction. Despite bladder dysfunction possibly caused by detrusor sphincter dyssynergia, previous studies reported relatively accepted bladder compliance in patients with HADDS. We present the first case of bladder augmentation, in the English literature, in a girl with EBF3-related syndrome due to poor bladder compliance with clean intermittent catheterization and anticholinergic medication.