title: Scintigraphy in Ochoa syndrome.
abstract: The Ochoa or urofacial syndrome is a disease characterized by non-neurogenic bladder dysfunction and unusual facial expressions when smiling or crying. It is an extremely rare disorder with over 150 cases reported in the medical literature. This condition has been determined to be inherited by an autosomal recessive pattern. We present radionuclide renogram and renal scan of a boy with a history of incontinence, frequent infections of the urinary tract, and gene mutations consistent with this syndrome. Nuclear medicine images showed extensive bilateral renal scarring and obstructive pattern in diuretic renogram.
authors.affiliation: Department of Nuclear Medicine, Infanta Cristina Hospital, Badajoz, Spain. infantetorre@yahoo.com
authors.forename: Jose Rafael
authors.initials: JR
authors.lastname: Infante
authors.forename: Juan I
authors.initials: JI
authors.lastname: Rayo
authors.forename: Justo
authors.initials: J
authors.lastname: Serrano
authors.forename: María L
authors.initials: ML
authors.lastname: Domínguez
authors.forename: Lucía
authors.initials: L
authors.lastname: García
authors.forename: Carmen
authors.initials: C
authors.lastname: Durán
mesh_terms: D002648:Child; D019066:Facies; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging / Q000503:physiopathology; D008297:Male; D009154:Mutation / Q000235:genetics; D011877:Radionuclide Imaging; D019783:Technetium Tc 99m Dimercaptosuccinic Acid; D014570:Urologic Diseases / Q000000981:diagnostic imaging* / Q000235:genetics
chemical_list: D019783:Technetium Tc 99m Dimercaptosuccinic Acid