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

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.