Preserving renal function in Ochoa syndrome: augmentation cystoplasty in an adolescent with neurogenic bladder

Ochoa syndrome, or urofacial syndrome, is a rare autosomal recessive disorder combining bladder dysfunction and abnormal facial expressions. We present the case of a teenager with genetically confirmed Ochoa syndrome and high-pressure, poorly compliant bladder. Despite initially preserved renal function, adherence challenges led to rapid deterioration and acute kidney injury. He underwent augmentation cystoplasty with marked improvement in renal function and symptom control. While the use of gastrocystoplasty has been reported in a child with Ochoa syndrome, this is to our knowledge the first report of utilising an ileal segment for augmentation cystoplasty. This highlights the importance of early recognition, multidisciplinary input and timely escalation when conservative measures fail.