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 f...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.展开更多
文摘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.
