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PubMed · 14614736

Patent urachus with bladder eversion.

Melania Yeats·Lewis Pinch
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Abstract

An infant was born at term after having received a diagnosis of omphalacele on prenatal ultrasound scan. She did not have an omphalacele but rather had a patent urachus with bladder eversion onto the abdominal wall. The remainder of the genitourinary tract was normal, and it was possible to pass a soft catheter through the urethra and out of the evaginated bladder. The prolapse was repaired without complications, and the infant recovered uneventfully. A voiding cystourethrogram and renal ultrasound scan were normal at 2 month follow-up. The embryology and malformations of the urachus are discussed, and the rare case reports of similar anomalies are reviewed.

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Bladder ExstrophyFemaleHumansInfant, NewbornUrachusCase ReportsJournal ArticleReview

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Melania Yeats, Lewis Pinch. 2003. Patent urachus with bladder eversion.. https://doi.org/10.1016/j.jpedsurg.2003.08.003

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PubMed2006

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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