Late diagnosed Ochoa Syndrome: Case report and literature review

Ochoa syndrome, also known as urofacial syndrome, is a rare genetic disease (OMIM #236730) with autosomal recessive inheritance of mutations in the heparanase 2 (HPSE2) and the LRIG2 genes, characterized by functional obstructive uropathy and unusual facial abnormalities. Progression to renal failure if not early diagnosed is inevitable. The therapeutic goals are to restore bladder emptying, preventing damage to the urinary tract with the use of prophylactic antibiotics, clean intermittent catheterization, anticholinergic use, botulinum toxin injection, urinary diversion and bladder augmentation to slow the evolution of the disease. This article aims to report a patient with late diagnosis of Ochoa Syndrome, as well as describe its characteristics and clinical outcome.