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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.
A 12-year-old boy presented to his primary care physician with a painful lump at the angle of the left mandible after being kicked in the jaw during a soccer game. Over the next 2 months the lesion became progressively firmer and fine needle aspiration was attempted. Results were non-diagnostic. Panorex examination revealed a calcified mass contiguous with the left angle of the mandible. Considerations were bony callus secondary to trauma versus a calcified hematoma. A maxillofacial CT showed multiple diffuse craniofacial osseous lesions including the clinically suspected region at the left angle of the mandible. Imaging findings were consistent with multiple craniofacial osteomas and workup for Gardner Syndrome was initiated. Genetic testing was subsequently positive for Familial Adenomatous Polyposis.
Hepatorenal syndrome (HRS) is a grave complication of
end-stage liver disease and is associated with a very high mortality.
This case report described a 42-year-old female with advanced
alcohol-induced cirrhosis who developed HRS that was initially treated with
Midodrine and Octreotide but renal function continued to deteriorate.
Vasopressin therapy was added and HRS was successfully reversed. There are few data
available on the use of vasopressin for HRS and this case supports its use in
treatment of HRS, particularly in countries where the more widely studied
Terlipressin is unavailable. This case also demonstrates that a patient failing one
medical therapy for HRS may respond to an alternative or adjunctive therapy. Therefore, this
should be attempted to increase the patient’s chance of survival.