An 8-year-old girl presented with history of recurrent urinary tract infection (UTI) along with episodes of urinary and fecal incontinence. Investigations revealed elevated creatinine (1.2 mg/dL, estimated glomerular-filtration rate (eGFR) = 42 mL/min/1.73 m2), bilateral hydronephrotic scarred kidneys with grade IV dilating vesico-ureteric reflux (VUR), and thickened urinary bladder wall. Urodynamic study confirmed a low capacity, high pressure urinary bladder with detrussor over activity. Neurological examination and magnetic resonance imaging of spine was un-remarkable. The diagnosis was clinched on seeing her typical facial expression on being asked to smile (Fig. 1 and Web Video 1).

Fig. 1 Characteristic facial expression on asking to smile (See video at website).

Ochoa syndrome or Urofacial syndrome (UFS) is characterized by urinary bladder or/and bowel dysfunction along with a characteristic facial expression that is most obvious during smiling or laughing wherein one gets an appearance of a ‘grimace’ despite an attempt at smiling (resulting from abnormal co-contraction of the corners of the mouth and eyes). It is inherited as autosomal recessive disorder with abnormalities in either of two genes – HPSE2 localized on chromosome 10q23-10q24 or LRIG localized on chromosome 1p13. A heterozygous nonsense variation in exon 4 of the LRIG2 gene (chr1:113636129; C>C/G; Depth: 121x) that results in a stop codon and premature truncation of the protein at codon 153 (p.Ser153Ter; ENST00000361127) was detected in the child by Next Generation Sequencing.