Urofacial Syndrome, an Expressive and Unmasking Sign of Voiding Dysfunction: Case Report and Review of the Literature.

Abstract

Urofacial syndrome (UFS) is a rare autosomal recessive disorder characterized by voiding dysfunction, inverted facial expressions when smiling, and potential mutations in LRIG2 or HPSE2 genes. We report two sisters diagnosed with UFS who were managed using sacral neuromodulation (SNM). The first, aged 24, had recurrent UTIs, chronic urinary retention, and a trabeculated bladder without vesicoureteral reflux (VUR). Genetic testing identified a homozygous LRIG2 variant. Following SNM, her voiding function improved, reducing the frequency of catheterization. The second patient, aged 27, presented with a Grade 5 left-sided VUR, severe hydronephrosis, and a nonfunctioning left kidney. Urodynamic studies revealed an acontractile bladder. Post-SNM, her postvoid residual decreased to 30 mL, allowing independent voiding. Both displayed the hallmark inverted facial grimace. Diagnostic imaging and urodynamics confirmed neurogenic bladder, excluding spinal anomalies. Management included clean intermittent catheterization (CIC) and SNM, which enhanced bladder emptying and reduced catheter dependence. This case highlights SNM as a promising therapeutic option in UFS, improving voiding efficiency and quality of life. Early recognition of the distinctive facial expression is critical to prevent upper tract damage. Urologists should suspect UFS in patients with voiding dysfunction and abnormal facial expressions, considering SNM as a viable intervention. Further studies on SNM's role in UFS are warranted.