TITLE:
Ochoa Syndrome—A Twins Case Report
AUTHORS:
Nilo J. L. Barretto, Carlos A. F. Molina, Marcelo F. Cassini, Inalda Facincani, Fernando Miyada, Nilo C. L. Barretto, Silvio Tucci Jr.
KEYWORDS:
Urofacial Syndrome, Ochoa Syndrome, Urinary Bladder, Neurogenic
JOURNAL NAME:
Surgical Science,
Vol.5 No.5,
May
19,
2014
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.