Ochoa Syndrome—A Twins Case Report

Nilo J. L. Barretto, Carlos A. F. Molina, Marcelo F. Cassini, Inalda Facincani, Fernando Miyada, Nilo C. L. Barretto, Silvio Tucci Jr.

Division of Urology, Bahia Federal University, Salvador, Brazil.
Division of Urology, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Brazil.
Pediatrics Department, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Brazil.
Division of Urology, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Brazil.

DOI: 10.4236/ss.2014.55036                

Abstract

Urofacial syndrome, known as Ochoa syndrome, is a very rare autosomal recessive disorder described as a clinical setting in which there is an association of a lower urinary tract and bowel dysfunction with a typical facial expression: the patient seems to be grimacing or crying when attempting to smile. If the diagnosis and treatment are delayed, the patients might have a poor outcome with continuous upper urinary tract deterioration, which makes the early diagnosis of this condition of vital importance. We report a case of two females identical twins, who are, nowadays, 19 years old, which had the Ochoa Syndrome diagnosis made when they were 10 years old, but discontinued medical follow up during treatment. They have developed chronic renal failure with hemodialysis need and are in a waiting list for kidney transplantation. In this rare disorder, even more unusual in twins and with high risks on progressing with renal failure, a simple attempt to smile may save lives if the condition is known by doctors such as pediatricians and pediatric urologists. Conclusion: We believe that unknowing this condition is the main explanation for this fact. Early diagnosis and close follow up are the key points to a successful outcome.

Keywords

Urofacial Syndrome, Ochoa Syndrome, Urinary Bladder, Neurogenic

Conflicts of Interest

The authors declare no conflicts of interest.

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