title: 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.
authors.affiliation: Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Atila Victal
authors.initials: AV
authors.lastname: Rondon
authors.affiliation: Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Bruno
authors.initials: B
authors.lastname: Leslie
authors.affiliation: Universidade Federal de Juiz de Fora, Juiz de Fora, MG, Brazil.
authors.forename: José Murillo Bastos
authors.initials: JM
authors.lastname: Netto
authors.affiliation: Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Ricardo Garcia de
authors.initials: RG
authors.lastname: Freitas
authors.affiliation: Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Valdemar
authors.initials: V
authors.lastname: Ortiz
authors.affiliation: Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Antonio
authors.initials: A
authors.lastname: Macedo Junior
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D018680:Cholinergic Antagonists / Q000627:therapeutic use; D019066:Facies; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D057928:Intermittent Urethral Catheterization / Q000379:methods*; D016030:Kidney Transplantation; D008297:Male; D010781:Photography; D012189:Retrospective Studies; D012904:Smiling; D001750:Urinary Bladder, Neurogenic / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D014549:Urinary Incontinence / Q000150:complications / Q000628:therapy; D014552:Urinary Tract Infections / Q000150:complications* / Q000628:therapy; D014570:Urologic Diseases / Q000150:complications / Q000175:diagnosis* / Q000628:therapy
chemical_list: D018680:Cholinergic Antagonists