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PubMed2004

Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq.

Cloacal exstrophy is a rare malformation, belonging to a spectrum of birth defects, which, in order of severity, includes phallic separation with epispadias, pubic diastasis, bladder exstrophy, and cloacal exstrophy. This malformation overlaps the OEIS complex (O = omphalocele, E = bladder exstrophy, I = imperforate anus, S = spinal defects). The etiology of cloacal exstrophy is unknown to date. It may result from either a single defect of early blastogenesis or a defect of mesodermal migration during the primitive streak period. We report an infant with cloacal exstrophy, exomphalos, right kidney agenesis, ambiguous external genitalia, and axial hypotonia. The karyotype showed a de novo unbalanced translocation between the long arm of chromosome 9 and the long arm of chromosome Y resulting in a 9q34.1-qter deletion. Reviewing the literature, we did not find any observation of cloacal exstrophy associated with a structural chromosomal abnormality. The steroidogenic factor 1 (SF1) gene, included in the deleted region, was a good candidate gene but no pathogenic mutation was found by direct sequencing. We hypothesize that another gene, expressed early in embryogenesis and responsible for cloacal exstrophy, is present in the 9q34.1-qter region.

Abnormalities, Multiple↗
PubMed1990

Seven years' experience of ureterosigmoidostomy in surgically failed exstrophy of the bladder.

Reconstruction of a typical exstrophy of bladder and to achieve normal or nearly normal functional activity is still in investigating stage. In spite of efforts of many surgeons satisfactory results are too far to be obtained and it is almost impossible to obtain a near normal bladder capacity with full continence, free of infection and non-obstructive to the upper urinary tracts. Six cases of exstrophy of bladder where reconstruction has failed several times were subsequently referred to the urology department of Calcutta National Medical College, Calcutta, for urinary diversion; on one case previous attempt at repair resulted in small thick walled bladder with recurrent calculus formation. This study was made on those 6 patients, their age ranging from 3 to 14 years, in whom ureterosigmoidostomy was carried out during the year 1979 to 1986. In all patients careful bowel preparation was carried out by low residue diet, laxatives, enemas and antibiotics. Two patients developed hyperchloraemia and acidosis, 2 pyelonephritis and 2 remained asymptomatic till December 1986. None of those patients died so far. Ureterosigmoidostomy is not ideal but it can be adequate and sometimes is the preferred form of urinary diversion within limited resources. None of the methods of urinary diversion are free from complications but considering all, ureterosigmoidostomy as a method of urinary diversion is non-hazardous simple procedure with practically no mortality.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2003

Female exstrophy: failure of initial reconstruction and its implications for continence.

PURPOSE: Bladder exstrophy is a rare malformation affecting only 1 female out of every 5 patients. In the female initial closure is combined with reconstruction of the outer genitalia, and urinary continence can be achieved by some girls without the need for later bladder neck reconstruction. We evaluated the management and outcome of failed initial closures in the female exstrophy population. MATERIALS AND METHODS: We performed a retrospective database review of patients with the exstrophy complex. Females with classic bladder exstrophy with failure of initial closure were identified. Age at initial closure, use of osteotomies, reasons for failure and number of closures, as well as definitive treatment and long-term outcomes were evaluated. RESULTS: Of 71 females with classic bladder exstrophy 14 had failure of initial closure. Of these patients 1 had undergone initial closure at our institution and 13 were referred for reclosure. Mean followup was 6.5 years (range 3 to 12) and mean age was 10 years (4 to 14). The patients underwent a maximum of 3 closures (mean 2.4). Initial osteotomies were performed in 4 patients, no osteotomy in 8 and status was unknown in 2. Reason for initial failure was dehiscence in 11 patients and prolapse in 3. Five patients underwent a second closure elsewhere. On referral reclosure was successful using osteotomies in all patients. Bladder neck reconstruction was done in 5 patients (3 are daytime continent) and continent diversion in 4 (all are dry). The other patients are awaiting final treatment. CONCLUSIONS: The single most important step to achieve urinary continence is successful initial bladder and posterior urethral closure. Pelvic osteotomies ensure a tension-free closure and enhance bladder outlet resistance. Radical mobilization of the vesicourethral complex allows placement of the bladder deep within the pelvis. Failure of the initial closure in the female exstrophy population has a severe impact on long-term outcome and quality of life.

Adolescent↗
PubMed1994

Superior vesical fissure: an exstrophy variant or a distinct clinical entity.

A case of superior vesical fissure is presented to discuss the embryologic origin of the anomaly. In view of the simplicity of the anomaly and the discrepancies between the characteristics of superior vesical fissure and bladder exstrophy, superior vesical fissure is suggested to be a distinct clinical entity with an embryological origin different from bladder exstrophy.

Bladder Exstrophy↗