Case Report: Child with Menkes syndrome complicated by bladder diverticula

Area of Science:

• Genetics
• Urology
• Pediatrics

Background:

• Menkes syndrome is a rare X-linked copper metabolism disorder caused by ATP7A gene variants.
• Characterized by developmental delay, hypotonia, and organ dysfunction.
• Bladder diverticula are a rare urological complication with potential for severe rupture.

Observation:

• A 3-year-old boy with Menkes syndrome presented with multiple bladder diverticula and rupture.
• The patient experienced acute abdominal effusion due to diverticular rupture.
• Surgical excision of bladder diverticula was performed, guided by imaging and urodynamics.

Findings:

• Postoperative urodynamic parameters demonstrated significant improvement.
• Follow-up confirmed satisfactory voiding function with no recurrence.
• Imaging and urodynamic studies were crucial for preoperative localization and postoperative assessment.

Implications:

• Early diagnosis and surgical management of bladder diverticula can improve Menkes syndrome prognosis.
• Imaging and urodynamic studies are vital for comprehensive patient management.
• These studies support long-term postoperative follow-up and monitoring.