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

Area of Science:

• Neuroscience
• Pediatric Urology
• Genetics

Background:

• Early B-cell factor 3 (EBF3)-related syndrome, also known as hypotonia, ataxia, and delayed development syndrome (HADDS), is a rare neurodevelopmental disorder.
• Bladder dysfunction is a common comorbidity in HADDS, potentially linked to detrusor sphincter dyssynergia.
• Previous research indicated generally acceptable bladder compliance in HADDS patients.

Observation:

• This report focuses on a pediatric patient diagnosed with EBF3-related syndrome (HADDS).
• The patient presented with significant bladder dysfunction, specifically poor bladder compliance.
• Standard treatments including clean intermittent catheterization and anticholinergic medication were insufficient.

Findings:

• This case represents the first documented instance of bladder augmentation in a patient with EBF3-related syndrome in the English literature.
• The surgical intervention was necessitated by refractory poor bladder compliance despite conservative management.
• The procedure aimed to improve bladder capacity and compliance.

Implications:

• This case highlights the potential for severe bladder compliance issues in EBF3-related syndrome, beyond what was previously recognized.
• Bladder augmentation should be considered as a viable treatment option for managing refractory bladder dysfunction in HADDS.
• Further research is warranted to understand the spectrum of urological manifestations in EBF3-related syndrome and optimize management strategies.