(Urofacial syndrome)

Autosomal recessive transmission (10q23-q24). Association of a neurogenic bladder, without any neurological deficit or apparent obstacle, and an inversion of the facial expression: the patient seems to cry when he/she smiles ! Obstinate constipation is often associated. Early diagnosis is important to avoid urinary tract infections and ureterohydronephrosis.

The facial mimicry anomaly is due to bilateral partial facial paralysis; at the level of the brainstem, the facial nerve nuclei are close to those responsible of the control of voiding.

Treatment: avoidance of bladder distension and associated infections with intermittent bladder catheterisation, injection of botulinum toxin, antibioprophylaxis etc.

It may be necessary to repair an ureterovesical reflux or perform an enterocystoplasty.

Anesthetic implications:

check renal function; monitor bladder volume (US or catheterisation) in case of neuraxial block.

References : 

-        Aydogdu O, Burgu B, Demirel F, Soygur T, Ozcakar ZB, Yalcinkaya F, Tekgul S. 
Ochoa syndrome : a spectrum of urofacial syndrome. 
Eur J Pediatr 2010; 169: 431-5

Updated: November 2018