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: I Ganesan, T Thomas
• Journal: The Medical journal of Malaysia (Med J Malaysia) Vol. 66 Issue 5 Pg. 507-9 (Dec 2011) ISSN: 0300-5283 [Print] Malaysia
• PMID: 22390114 (Publication Type: Journal Article)

Topics

• Adolescent
• Child
• Facial Expression
• Facial Muscles (physiopathology)
• Female
• Humans
• Male
• Pedigree
• Smiling (physiology)
• Syndrome
• Urinary Bladder, Neurogenic (physiopathology)