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PubMed · 8461957

The failed exstrophy closure: strategy for management.

Abstract

In the last 7 years, 29 boys and 11 girls have been referred with failure of their exstrophy closure; 38 patients had classic bladder exstrophy and 2 had cloacal exstrophy. Reclosure was performed for complete bladder dehiscence in 28 cases and for significant bladder prolapse in 10. Two patients underwent revision of the posterior urethra after primary closure due to a severe urethral stricture secondary to the use of para-exstrophy skin flaps. Six patients underwent posterior iliac osteotomy at the time of initial bladder closure and in 34 no osteotomy was performed. Thirty-seven patients underwent either posterior iliac osteotomy (15) or anterior innominate osteotomy (22). Epispadias repair together with reclosure of bladder exstrophy was done in 20 boys. The upper tract has remained normal in all patients. Fourteen have undergone subsequent bladder neck reconstruction. Seven patients have undergone simultaneous bladder neck reconstruction and augmentation cystoplasty and 1 has undergone augmentation cystoplasty and Mitrofanoff procedure; all are dry on intermittent self-catheterisation. The failed exstrophy reconstruction represents a formidable dilemma. However, a well planned reconstruction including osteotomy (even if previously performed), reclosure with or without epispadias repair or revision of the urethra can be performed with an excellent chance of proceeding with staged reconstruction.

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BibTeXRIS

J P Gearhart, D S Peppas, R D Jeffs. 1993. The failed exstrophy closure: strategy for management.. https://doi.org/10.1111/j.1464-410x.1993.tb15922.x

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MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor?

Apart from Husmann and Vandersteen [in: Gearhart JP, Matthews R (eds) The Epispadias-Exstrophy Complex. Kluwer, New York, pp 199-206, 1999], we report only the second case of Down syndrome (DS) associated with exstrophy of the bladder (EB). Besides the appearance of DS, the newborn exhibited a complete atrioventricular canal (CAVC) and classical EB, including diastases of the symphysis, an epispadic penis and an open bladder plate. Despite current recommendations, the mother had not supplemented her intake of folic acid during the periconceptional period. In a comparable case, Al-Gazali et al. (Am J Med Genet 103:128-132, 2001) found the homozygous 677T allele of the methylenetetrahydrofolate (MTHFR) gene 677C-->T polymorphism in a mother and her child with DS and cervical meningomyelocele. They found that the mother, who also had not supplemented her folic acid intake, had a secondarily altered folate status with an increased homocysteine level, suggesting that the homozygous TT mutation in the MTHFR gene in both mother and her child had contributed to the presentation of DS and a neural tube defect. The combined clinical findings of the present case and the observations of Al-Gazali et al. led us to investigate the 677C-->T polymorphism in our mother-child pair. Likewise we found that mother and child were homozygous for the mutant 677T allele. Our findings support the suggestion of Al-Gazali et al. that the MTHFR 677TT could be a mutual genetic risk factor for the co-occurrence of trisomy 21 and midline defects, the risk of which may be reduced by periconceptional folic acid supplementation.

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