title: More than meets the smile: facial muscle expression in children with Ochoa syndrome.
abstract: The Ochoa syndrome is the association of a non-neurogenic neurogenic bladder with abnormal facial muscle expression. Patients are at risk for renal failure due to obstructive uropathy. We report a family of three siblings, with an emphasis on the abnormalities in facial expression. Careful examination shows an unusual co-contraction of the orbicularis oculi and orbicularis oris muscles only when full facial expressions are exhibited, across a range of emotional or voluntary situations. This suggests a peripheral disorder in facial muscle control. Two thirds of patients have anal sphincter abnormalities. Aberrant organisation of the facial motor and urinary-anal sphincter nuclei may explain these symptoms.
authors.affiliation: Nephrology Unit, Department of Paediatrics, Sabah Women and Children's Hospital, Kota Kinabalu, Malaysia. indra.ganesan@me.com
authors.forename: I
authors.initials: I
authors.lastname: Ganesan
authors.forename: T
authors.initials: T
authors.lastname: Thomas
mesh_terms: D000293:Adolescent; D002648:Child; D005149:Facial Expression; D005152:Facial Muscles / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D012904:Smiling / Q000502:physiology*; D013577:Syndrome; D001750:Urinary Bladder, Neurogenic / Q000503:physiopathology*