Ochoa's syndrome in Argentine

Bertolotti, A.F.; González, S.G.T.; Etcheverry, R.M.

Cirugia Pediatrica Organo Oficial de la Sociedad Espanola de Cirugia Pediatrica 20(1): 54-56

2007


ISSN/ISBN: 0214-1221
PMID: 17489495
Document Number: 611369
Urofacial syndrome was described by Elejade in 1979, who coined the term "Ochoa's Syndrome". It includes abnormal micturition, upper urinary tract dilatation, constipation and facial peculiar expression while smiling. In 1995, 3 boys with 2, 7 and 9 years old, come to the La Plata Children's Hospital, affected for this syndrome, with young, normal and no consanguinity parents. Clean intermittent catheterization was indicated in all cases, with oxibutinin in one of them, with enuresis in all the cases and normal serum creatinine for three years, when discontinued the follow-up. This cases been demonstrated the genetic condition of this syndrome, because there were 3 brothers in different steps of this condition, with the same age of initiation and progression We describe the three first cases in Argentine

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