title: Urofacial syndrome: a subset of neurogenic bladder dysfunction syndromes?
abstract: The urofacial syndrome (Ochoa syndrome) is considered to represent a subgroup of the non-neurogenic bladder dysfunction, characterized by non-neuropathic bladder-sphincter dysfunction, along with a characteristic inversion of the facial expression with laughing. Recent research suggests that it is probably a genetic inherited disease transmitted in an autosomal recessive fashion and might represent a distinct entity. We report a case of this syndrome in a 14-year-old boy who presented with left pyelonephritis, hydronephrosis, and bladder dilation.
authors.affiliation: Department of Urology, General Hospital of Thebes, Thebes, Greece.
authors.forename: K
authors.initials: K
authors.lastname: Stamatiou
authors.forename: S
authors.initials: S
authors.lastname: Tyritzis
authors.forename: C
authors.initials: C
authors.lastname: Karakos
authors.forename: A
authors.initials: A
authors.lastname: Skolarikos
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D003937:Diagnosis, Differential; D005149:Facial Expression; D019066:Facies; D006801:Humans; D006869:Hydronephrosis / Q000175:diagnosis*; D008297:Male; D011704:Pyelonephritis / Q000175:diagnosis*; D001743:Urinary Bladder / Q000503:physiopathology; D001750:Urinary Bladder, Neurogenic / Q000175:diagnosis* / Q000473:pathology; D014570:Urologic Diseases / Q000175:diagnosis* / Q000473:pathology; D014572:Urology / Q000379:methods*