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PubMed · 15897706

Pseudoexstrophy with epispadias.

Abstract

The exstrophy variants are uncommon anomalies. The variants of the exstrophy complex have all the stigmata of the classical exstrophy such as divergent recti, widened symphysis pubis, and low-set umbilicus; however, the urinary tract is intact to a varying degree. Pseudoexstrophy, an exstrophy variant, is very rarely associated with epispadias. We report an unusual case of pseudoexstrophy with epispadias, in whom the intact bladder was initially covered by a mucous membrane which later epithelialized. The epispadias was repaired using a penile disassembly technique with posterior and ventral placement of bladder neck and urethra. Although the urethral meatus was hypospadiac, the child had achieved dry intervals with occasional stress incontinence.

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BibTeXRIS

J K Mahajan, Sunita Ojha, K L N Rao. 2005. Pseudoexstrophy with epispadias.. https://doi.org/10.1159/000084440

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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.

Bladder Exstrophy↗

Repeat pelvic osteotomy in patients with failed closure of bladder exstrophy: applications and outcomes.

BACKGROUND/PURPOSE: In patients with failed primary or secondary closure of bladder exstrophy, repeat osteotomy is useful in facilitating reconstruction. The clinical consequences of repeated surgical disruption of the pelvic ring have not been carefully described, however. METHODS: We reviewed our experience with exstrophy patients who had undergone repeat pelvic osteotomy (RPO) and analyzed patient history, complications, and orthopedic outcomes. RESULTS: Fifty-six patients who underwent RPO were identified. All had previously failed at least one attempted bladder closure. The patients underwent RPO at a mean age of 23.2 months. The mean time from initial osteotomy to RPO was 20.5 months. Anterior innominate or combined iliac/innominate approaches comprised 80% of RPO procedures. Of the patients, 95% had a normal gait after RPO; all 3 patients with an abnormal gait had osteotomy site nonunion, which was treated with bone grafting. Five patients had local fixator pin site infections, which were managed with local care and oral antibiotics, and 1 patient had late osteomyelitis requiring incision and drainage. No patient had femoral or sciatic nerve palsy after RPO at our institution. CONCLUSIONS: Orthopedic complications after RPO are uncommon, and most patients have a normal gait postoperatively. Repeat pelvic osteotomy is useful in the complex reconstruction of failed exstrophy closures, and few cases fail reclosure when the reconstruction is combined with RPO.

Bladder Exstrophy↗