Abstract
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.
Highlights
Ochoa syndrome, known as urofacial syndrome, is a rare condition characterized by functional obstructive uropathy and unusual facial abnormalities
The syndrome is a subset of nonneurogenic neurogenic bladder first described by Hinman, and the explanation for the inverted expression would be the proximity of the micturition center with laughter and crying, that are located in the upper bridge of the midbrain, where even a subtle neurological injury could simultaneously affect both regions [3]
Recent researches were found the defective gene for urofacial syndrome in a region on chromosome 10q23-q24, with evidence of mutations on Heparanase 2 (HPSE2) gene that would be responsible for Ochoa syndrome
Summary
Introduction Ochoa syndrome, known as urofacial syndrome, is a rare condition characterized by functional obstructive uropathy and unusual facial abnormalities. It progresses to renal failure if not diagnosed early. Complaint of several episodes of urinary infection and bedwetting He was in long-term use of oxybutynin and doxazosin. Urodynamic study showed bladder cystometric capacity of 212 ml with 38 water centimeters pressure, bladder compliance of 5.5 ml/water cm, absence of uninhibited contractions of the detrusor with flowmetry revealing hesitant and interrupted pattern with urinated volume of 150 ml and 62 ml post void residual urine, with a peak flow of 3.7 ml / second and detrusor pressure at the opening of 76 centimeters of water [Fig. 3 and 4]. The clinical evaluation clearly presented facies with inverted smile [Fig. 5]
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