The Urofacial (Ochoa) Syndrome

Abstract

Introduction: The urofacial (Ochoa) syndrome is a rare autosomal recessive disease characterized by congenital obstructive uropathy and abnormal facial expression. Case presentation: We reported the case of a child aged six-years-old, the second child of consanguineous parents, the father reported that she has suffered from episodes of urinary tract infection, and enuresis. She was admitted in our department for an urinary tract infection. The clinical examination showed a characteristic, inverted, facial expression. The urea and creatinine were increased and GFR: 20 ml/min, renal echography showed an enlarged kidneys, with ureteral and calycial dilatation, and a lowcompliance bladder with pseudodiverticulae, and a significant residual urine after voiding: 130 ml. Voiding cystourethrography showed a trabeculated bladder and a significant post-mictural residue. The urofacial syndrome was suspected of: Facial characteristic expression + urinary abnormalities. She was initially treated with antibiotic prophylaxis and anticholinergics, conservative treatment of renal failure and urinary self catheterization to void bladder. Conclusion: Ochoa syndrome should always be considered in patients with dysfunctional bladder who have characteristic grimacing when smiling, The prognosis of urofacial syndrome is generally poor and requires multiple treatment modalities.