The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications

Abstract

Ochoa syndrome is rare and its major clinical problems frequently unrecognized. We describe facial characteristics of six patients to help health professional recognize the inverted smile that these patients present and refer them to proper treatment. Patients’ medical records were reviewed and patients’ urological status clinically reassessed. At last evaluation patients’ mean age was 15.5 years, and age ranged from 12 to 32 years. Mean follow-up was 35 months (12 to 60). Initial symptoms were urinary tract infections in four patients (67%) associated with enuresis and incontinence in three of them (50%). One patient had only urinary tract infection and two lower urinary tract symptoms without infections. Initial treatment consisted of clean intermittent catheterization with anticholinergics for all patients. Four patients (67%) were submitted to bladder augmentation. Two patients had end-stage renal disease during follow-up, one received kidney transplantation and one patient remained on the waiting list for a renal transplantation. Familial consanguinity was present in only one case. This significant condition is rare, but it must be recognized by pediatricians, nephrologists and urologists in order to institute early aggressive urological treatment.

Ochoa Syndrome: An Overlooked Diagnosis – A Case Report

“…Despite the variability, bladder dysfunction follows the same behavior in all clinical presentations. Clinical cases bring in their presentation the signs and symptoms that may be present in each patient, such as craniofacial abnormalities characterized by inverted smile [8,12], bladder dysfunction [9,10] and nocturnal lagophthalmos [11]. This is one of the rare cases reported in the state of Piauí, with a patient presenting the complete characteristics of the inverted face pathology and complications in the urinary tract.…”