Case Of Cloacal Exstrophy Research Articles

009. Case Report: Cloacal Exstrophy a Rare Case of Abdominal Defect on Pediatrics

Background: Cloacal Exstrophy (CE) is a rare congenital disorder. CE caused by rupture of the cloacal membrane before the urogenital septum is formed, then causes herniation. CE has incidence of 1: 200,000 to 1: 400,000. Embryologically, CE is considered to be the result of a defect in the caudal mesoderm, around 29 developmental days, or failure of mesodermal migration during the primitive streak period resulting in failure of cloacal septation. The aims and objectives of this case report are to explain the case in depth with existing literature and its suitability. Case: The method used is prospective direct observation. The case, a female 2-days-old patient, presented with omphalocele, ileal prolapse, incompletely formed hindgut, open bladder, abdominal wall defect, and urine come from the hemiblader and meconium from the cecal plate. The patient was born via cesarean because the mother with fetal distress. The patient underwent a Dual Stage Pathway (DSP), first the abdominal wall defect was closed with a colostomy, then bladder reconstruction was carried out. The reconstruction procedure in CE cases can be carried out with Dual Stage Pathway (DSP), which consists of omphalocele reconstruction, bladder closure, gastrointestinal diversion and closure of the abdominal wall. Conclusion: CE is a congenital disorder in many organ systems including neurological, gastrointestinal, musculoskeletal, renal and genitourinary. Surgical management of CE patients requires multidisciplinary care with a multi-stage approach.

Association between cloacal exstrophy and two limited dorsal myeloschisis lesions: A case report and literature review

Background: The term limited dorsal myeloschisis (LDM) was coined by Pang in 1993. It involves incomplete obliteration of the dorsal neural fold in primary neurulation. On the other hand, Cloacal Exstrophy is one of the most complex endodermal anomalies and is usually associated with spinal anomalies; hence, the term OEIS complex was coined (Omphalocele, Exstrophy of the cloaca, Imperforate anus, and Spinal deformities complex).
 Case Description: We report the coexistence of two LDM lesions in tandem (originating at L2 and S2 levels) in a child diagnosed with cloacal exstrophy. Initially, prenatal ultrasound detected the lumbar but not the sacral lesion. The patient was surgically untethered under intraoperative neurophysiologic monitoring (IOM) at four years of age, and this paper reports his one-year follow-up.
 Conclusion: Cases of cloacal exstrophy must always be investigated for spinal cord malformations. LDM is rare and requires careful diagnosis. MRI should be done for the whole neuroaxis to rule out associated conditions, including multiplicity. Surgery should be done under IOM to avoid long-term complications.

Cloacal Exstrophy: Documenting a Particular Case in Yaoundé, Cameroon

Cloacal exstrophy in its most complex form with OEIS syndrome is characterized by the existence of an Omphalocele, Exstrophied bladder, Imperforate anus, and Spina bifida. We report a particular case of Cloacal exstrophy with OEIS complex and further birth defects. The diagnostic and therapeutic approaches, as well as difficulties encountered in a limited resource setting, are highlighted. This was a 1-day old neonate referred for the management of multiple congenital malformations, including antenatal diagnosis of malformative uropathy. On admission, the clinical findings included: a type 1 omphalocele, an anorectal malformation with a recto-urinary fistula and a covered lumbosacral dysraphism. Paraclinical examinations with cardiac and trans fontanelle ultrasound revealed associated cardiac anomaly and findings in favor of lombo-sacral dysraphism. Supportive care was given and surgical reconstruction of birth defects on day 20 was done. In conclusion, cloacal exstrophy is a rare morbid congenital polymalformative syndrome in neonates, especially when presenting with OEIS complex or syndrome. They require prompt diagnosis and immediate postnatal multidisciplinary management, with long-term follow-up for a favorable outcome.

Cloacal Exstrophy: Documenting a Particular Case in Yaoundé, Cameroon

Cloacal exstrophy in its most complex form with OEIS syndrome is characterized by the existence of an Omphalocele, Exstrophied bladder, Imperforate anus, and Spina bifida. We report a particular case of Cloacal exstrophy with OEIS complex and further birth defects. The diagnostic and therapeutic approaches, as well as difficulties encountered in a limited resource setting, are highlighted. This was a 1-day old neonate referred for the management of multiple congenital malformations, including antenatal diagnosis of malformative uropathy. On admission, the clinical findings included: a type 1 omphalocele, an anorectal malformation with a recto-urinary fistula and a covered lumbosacral dysraphism. Paraclinical examinations with cardiac and trans fontanelle ultrasound revealed associated cardiac anomaly and findings in favor of lombo-sacral dysraphism. Supportive care was given and surgical reconstruction of birth defects on day 20 was done. In conclusion, cloacal exstrophy is a rare morbid congenital polymalformative syndrome in neonates, especially when presenting with OEIS complex or syndrome. They require prompt diagnosis and immediate postnatal multidisciplinary management, with long-term follow-up for a favorable outcome.

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.

Cloacal exstrophy (CE) and persistent cloaca (PC) (alternatively termed urorectal septum malformation sequence [URSMS]), represent two major cloacal defects (CDs). Clinical characteristics and risk factors often are studied for both defects combined, rather than exploring if these defects have different etiologies. We enumerated clinical features for 47 CE and 54 PC (inclusive of URSMS) cases from the National Birth Defects Prevention Study. Thirty-three CE cases were classified as isolated and 14 as multiple (presence of unassociated major defects); respective totals for PC cases were 26 and 28. We compared selected child and maternal characteristics between 11,829 non-malformed controls and CE and PC cases using chi-square or Fisher's exact tests. Compared to controls, CE and PC cases were statistically more likely (p < 0.05) to be preterm; CE cases were more likely to be multiple births. We conducted logistic regression analysis to estimate odds ratios and 95% confidence intervals for any CD, CE, and PC with selected self-reported maternal prepregnancy and periconceptional (one month prior to 3 months following conception) exposures. In crude and adjusted analyses, we observed significant positive associations for any CD, CE, and PC with use of any fertility medication or assisted reproductive technology procedure. Significant positive associations observed only in crude analyses were any CD with maternal obesity or use of progesterone, any CD and CE with any x-ray, and any CD and PC with use of folate antagonist medications. Our findings provide some of the first insights into potential differing etiologies for CE and PC.

The current profile of persistent cloaca and cloacal exstrophy in Japan: the results of a nationwide survey in 2014 and a review of the literature

PurposeThe current profile of persistent cloaca (PC) and cloacal exstrophy (CE) in Japan was first examined in 2014.Materials and methodsInformation was obtained by sending a questionnaire to 244 university hospitals and children’s hospitals.ResultsResponses from 113 institutions reported 466 PC cases and 229 CE cases. The incidences of PC and CE from 1980 to 2012 were 0.97 and 0.49 per 100,000 live births, respectively. In the previous 5 years, antenatal abnormalities were found in 57.6% of PC and 72.7% of CE patients. Myelomeningocele was observed in 45.6% of CE patients. As a result of various surgical treatments used in the neonatal and infantile periods, the respective rates of bladder dysfunction, clean intermittent catheterization, and permanent enterostomy were 32.6, 22.5, and 7.3% in PC patients and 60.7, 28.4, and 73.8% in CE patients. Menstrual outflow obstruction was found in 22.5% of PC and 48.9% of CE patients with menstruation.ConclusionThe clinical outcomes of PC and CE remain unsatisfactory. Therefore, the establishment of treatment guidelines might be a useful objective for improving the current status of PC and CE.

Prenatal Diagnosis of Cloacal Exstrophy: A Case Report and Review of the Literature

Cloacal exstrophy (CE) is a rare congenital disorder with a number of significant associated anomalies. Fetal ultrasound has been used to identify CE; however, accurate diagnosis is challenging. Recently, magnetic resonance imaging has been reported to improve prenatal diagnosis and better characterize the associated defects. We report a case of CE accurately diagnosed using magnetic resonance imaging after fetal ultrasound was nondiagnostic and review the literature comparing the use of each modality.

Cloacal exstrophy with vesicoureteric junction obstruction: Rare association

Cloacal exstrophy is an extremely rare congenital abnormality resulting in an exstrophy of the urinary, intestinal and genital organs and associated with anomalies of other organ systems. We report a complicated case of cloacal exstrophy associated with right vesicoureteric junction obstruction.

Cloacal Exstrophy: A Case Report and Literature Review

Cloacal exstrophy is an extremely rare congenital malformation resulting in an exstrophy of the urinary, intestinal, and genital organs and associated with anomalies of other organ systems. We present a complicated case of cloacal exstrophy and the recent progress in the management of this probably most complicated anomaly in pediatric urology and surgery.

Cloacal exstrophy variant with intravesical phallus: Further description of anatomy and implications for gender reassignment

Variant presentations of cloacal exstrophy are exceedingly rare. Historically, genetic males with cloacal extrophy were re-assigned to the female gender due to phallic inadequacy. Early recognition of intravesical phallic structures in cloacal exstrophy cases may impact gender reassignment discussions and long-term gender outcomes. We report the case of a male infant with cloacal exstrophy presenting with an intravesical phallus, review and compare the presenting anatomical features of the three previously reported cases, and discuss the potential impact of these findings on gender reassignment in these complex children.

Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research

Cloacal exstrophy presents as a complex abdominal wall defect thought to result from a mesodermal abnormality. Anatomically, its main components are Omphalocele, bladder Exstrophy and Imperforate anus. Other associated malformations include renal malformations and Spine defects (OEIS complex). Historically, the prevalence ranges from 1 in 200,000 to 400,000 births, with higher rates in females. Cloacal exstrophy is likely etiologically heterogeneous as suggested by its recurrence in families and occurrence in monozygotic twins. The defect has been described in infants with limb-body wall, with trisomy 18, and in one pregnancy exposed to Dilantin and diazepam. Due to its rarity, the use of a nonspecific diagnostic code for case identification, and lack of validation of the clinical findings, cloacal exstrophy remains an epidemiologic challenge. The purpose of this study was to describe the prevalence, associated anomalies and maternal characteristics among infants born with cloacal exstrophy. We used data from the International Clearinghouse for Birth Defects Surveillance and Research submitted from 18 birth defect surveillance programs representing 24 countries. Cases were clinically evaluated locally and reviewed centrally by two authors. Cases of persistent cloaca were excluded. A total of 186 cases of cloacal exstrophy were identified. Overall prevalence was 1 in 131,579 births: ranging from 1 in 44,444 births in Wales to 1 in 269,464 births in South America. Live birth prevalence was 1 in 184,195 births. Prevalence ratios did not vary by maternal age. Forty-two (22.6%) cases met the criteria for the OEIS complex, whereas 60 (32.3%) were classified as OEI and 18 (9.7%) as EIS (one with suspected VATER (0.5%)). Other findings included two cases with trisomy 13 (one without a karyotype confirmation), one with mosaic trisomy 12 (0.5%), one with mosaic 45,X (0.5%) and one classified as having amnion band sequence (0.5%). Twenty-seven (14.5%) infants had other anomalies unrelated to cloacal exstrophy. Cloacal exstrophy is a rare anomaly with variability in prevalence by geographic location. The proportion of cases classified as OEIS complex was lower in this study than previously reported. Among all cases, 54.8% were reported to have an omphalocele.

Serial fetal magnetic resonance imaging of cloacal exstrophy

Cloacal exstrophy (CE) is a rare congenital malformation involving the urinary, intestinal, and genital systems. We present a case of CE in which characteristic findings were detected at two serial fetal magnetic resonance imaging (MRI) sessions. At 18 weeks' gestation, the initial fetal MRI revealed a cystic mass protruding from the infra-umbilical abdominal wall. During fetal development, the cystic mass disappeared, and an omphalocele and heterogeneous soft tissue mass were recognized at 28 weeks' gestation. The bladder was not visualized on either examination. CE can be diagnosed by prenatal MRI, thereby permitting prenatal counseling and appropriate postnatal management.

Abdominal wall closure in bladder exstrophy complex repair by rectus flap

The Exstrophy Complex (EC) is a serious malformation of midline abdominal wall. Wide pubis prevents approximating the lateralized rectus muscle and leads to dehiscence and fistula formation. Our aim was to recommend an easier method for abdominal wall closure in the Bladder Exstrophy (BE) complex repair. From November 2007 to April 2010, we had three case of Cloacal Exstrophy (CE) and 10 BE, in which early bladder closure and coverage were performed by wide mobilization of bladder and rectus muscle flap closure in the midline without pubic closure. Two cases of CE had only minor wound dehiscence and bladder prolapsed later. One of the 10 BE cases developed vesicocutaneous fistula and the other two had minor wound dehiscence. Our Technique reconstructed the abdominal wall with less morbidity and hospitalization because of tensionless closure.

QUALITY OF LIFE PREDICTORS IN YOUNG ADULT PATIENTS TREATED WITH BLADDER EXSTROPHY

You have accessJournal of Urology1 Apr 2008QUALITY OF LIFE PREDICTORS IN YOUNG ADULT PATIENTS TREATED WITH BLADDER EXSTROPHY Amilcar M Giron, Carlo C Passerotti, Marcos Machado, and Miguel Srougi Amilcar M GironAmilcar M Giron More articles by this author , Carlo C PasserottiCarlo C Passerotti More articles by this author , Marcos MachadoMarcos Machado More articles by this author , and Miguel SrougiMiguel Srougi More articles by this author View All Author Informationhttps://doi.org/10.1016/S0022-5347(08)60280-3AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail "QUALITY OF LIFE PREDICTORS IN YOUNG ADULT PATIENTS TREATED WITH BLADDER EXSTROPHY." The Journal of Urology, 179(4S), p. 96 © 2008 by American Urological AssociationFiguresReferencesRelatedDetails Volume 179Issue 4SApril 2008Page: 96 Advertisement Copyright & Permissions© 2008 by American Urological AssociationMetricsAuthor Information Amilcar M Giron More articles by this author Carlo C Passerotti More articles by this author Marcos Machado More articles by this author Miguel Srougi More articles by this author Expand All Advertisement PDF downloadLoading ...

Epidemiology of bladder and cloacal exstrophies in New york state, 1983–1999

Bladder exstrophy (BE) and cloacal exstrophy (CE) are rare birth defects that have been reported to occur in 1:30,000-50,000 and 1:200,000-400,000 live births. Disagreement exists as to whether they comprise two distinct disorders or are part of a spectrum. We examined epidemiologic trends and risk factors for BE and CE in a large population-based dataset. Potential cases were identified in the New York State (NYS) Congenital Malformations Registry. When nonspecific codes for CE were reported, narrative descriptions were reviewed for classification. Birth certificate data were analyzed with descriptive statistics and Poisson regression was used to calculate crude (PR) and adjusted prevalence ratios (aPR) and 95% confidence intervals (CI). In NYS from 1983 through 1999, 95 BE cases and 29 CE cases were identified for a live-birth prevalence of 2.1 and 0.6 per 100,000 live births. BE showed a statistically significant downward linear trend by year. Factors associated with BE included summer conception (vs. winter, aPR 2.46, CI 1.19-5.10), white, non-Hispanic maternal race/ethnicity (vs. black non-Hispanic, aPR 3.20, CI 1.20-8.52), and male sex (female vs. male, aPR 0.53, CI 0.33-0.87). Factors associated with CE included preterm low birth weight birth (aPR 14.55, CI 5.28-40.07), multiple birth (aPR 6.68, CI 1.19-23.27), non-New York City residence (aPR 3.27, CI 1.04-10.22), and female sex (aPR 2.57, CI 1.00-6.64). Infant mortality was greater in the CE group. The epidemiology suggests different risk factor patterns for BE and CE. Classification of BE and CE is difficult due to the nonspecific coding.

A genetic model for cloacal exstrophy, the extreme cloacal malformation

Cloacal exstrophy (CE) or vesicointestinal fissure is an uncommon but well known anomaly that represents the extreme cloacal malformation. It is most often seen as an isolated anomaly, or as part of the OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Limb anomalies are also seen with CE. Unlike the OEIS complex, limb anomalies occur as independent malformations. Here, we present two cases of CE with limb anomalies that are consistent with the phenotype seen in Disorganization ( Ds), an unusual human malformation syndrome. From reviewing the mouse model, it may be that the Ds gene is a candidate for isolated CE as well.

The morphogenesis of the exstrophy-epispadias complex: a new concept based on observations made in early embryonic cases of cloacal exstrophy

The term exstrophy-epispadias complex (EEC) has been coined for a group of congenital malformations that includes epispadias, bladder exstrophy and cloacal exstrophy. It is usually thought that these malformations develop against a similar embryological background. This background, however, is still obscure. This is mainly due to the lack of availability of abnormal human or non-human embryos showing the crucial developmental steps in the morphogenesis of EEC malformations. In this paper, we present chick embryos that show cloacal exstrophy at early developmental stages. To the best of our knowledge, this is the first documentation of this rare malformation in young embryos. Embryos with cloacal exstrophy (n=4) were found among embryos from two experimental series (n=50) that were primarily performed to document the early morphogenesis of facial and cardiovascular malformations. The malformations were induced by the administration of suramin according to established protocols. Suramin can induce a spectrum of malformations including facial clefts, heart defects, and cloacal exstrophy. Besides the presence of an abnormal opening into the cloaca, all embryos were characterised by an abnormal broadening of the caudal trunk at the level of the leg buds, which, in the youngest embryos, was associated with the abnormal presence of large aneurysmatic swellings of the dorsal aortae at this side. We postulate that these aneurysmatic swellings might be the primary defects leading to the development of EEC malformations. These space-occupying anomalies seem to cause abnormal distensions of the developing pelvis and of the infra-umbilical portion of the developing body wall. In consequence, the mid-portion of the developing ventral body wall between the origin of the umbilical cord and the cloacal plate becomes stretched and thinned out. Tension and thinning of the ventral body wall might ultimately lead to its rupture with exposure of the lumen of the embryonic cloaca and allantois. This new concept on the morphogenesis of the EEC is the first not to be inferred from the conditions seen in fetal or postnatal human cases but is based entirely on data from malformed embryos.

Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the ‘elephant trunk-like’ image and review of the literature

A case of cloacal exstrophy (CE) was detected by ultrasound as early as 22 weeks of gestation in association with myelocystocele complex, an unusual form of occult spinal dysraphism often associated with such a disease. The ultrasonographic diagnosis was made through the detection of a wavy cord-like segment of soft tissue protruding from the anterior abdominal wall, just below the umbilical cord insertion, strongly resembling the trunk of an elephant. Our article enforces the suggestion that the ultrasound elephant trunk-like image should be added to the existing major criteria for making prenatal diagnosis of CE.

CLOACAL EXSTROPHY VARIANTS. CAN BLIGHTED CONJOINED TWINNING PLAY A ROLE?

For normal single births with evidence of first trimester twinning, vanishing twin rates of 13% to 78% have been reported. We propose that blighting of a conjoined twin can result in an infant with a variation of cloacal exstrophy. We retrospectively reviewed the records of 26 patients with cloacal exstrophy treated from January 1989 to November 2003, all of whom had prenatal evaluations readily available to determine the presence of twinning. The criterion for establishing the prenatal diagnosis of twins was the documentation of 2 fetal heart tones on Doppler and/or 2 fetal poles on ultrasound. All 26 patients had prenatal care including prenatal fetal Doppler studies and followup ultrasound. Of the patients 15 had classic cloacal exstrophy (58%) with no evidence of twin gestations documented. Of the 26 cloacal exstrophy cases 11 (42%) were cloacal exstrophy variants, including 8 of the 11 (73%) with consistent findings of twin gestation on prenatal studies. All 8 patients had documented 2 fetal heart tones in the first trimester, and 4 had 2 fetal poles in 1 amniotic sac on prenatal ultrasound. Five patients had subsequent ultrasound studies showing a single fetus by the second trimester. Two patients were born conjoined with 1 of the twins lifeless at birth in both cases. We propose that blighted conjoined twinning may be a cause of cloacal exstrophy variant cases.

Cloacal exstrophy: A 25-year experience with 50 cases

The aim of this study was to evaluate the outcomes of reconstruction of all cloacal exstrophy cases seen by the authors from 1974 to 1999. A retrospective chart review and personal follow-up was conducted on all 50 patients, who ranged in age from newborn to 35 years. Thirty-eight were secondary cases, 12 were primary (no previous surgery). Twenty-eight (56%) were genetic boys; 6 were raised as boys and 22 as girls. Forty patients underwent extensive reconstructive surgery; 6 await reconstruction, and 4 were seen only in consultation. For urinary continence, 21 had bladder neck narrowing, 7 received a bowel nipple, and 12 had a Mitrofanoff catheterizable conduit on the abdominal wall, using tapered intestine in 8, ureter in 3 and the appendix in 1. Four patients had a urostomy. Bladder augmentation was performed in 35 patients (18 with stomach, 11 small bowel, and 6 with both). Twenty-five patients had pull-through of their colon to the perineum. Thirty-two have had a vagina constructed. Forty-seven of the 50 patients had spinal cord tethering, and most underwent neurosurgical release. Overall survival rate was 98%; 1 patient died preoperatively at another institution. Acceptable bowel continence was achieved with enema washouts in 19 of 25 pullthroughs; 4 failed and were reversed. One case is too recent to judge. Of 40 reconstructed cases, 31 were dry, 3 had slight leakage, and 1 is too early to evaluate. Five had enough leakage to require further surgery. The once hopeless anomaly of cloacal exstrophy is treatable with extensive reconstructive surgery. Continence of urine (mainly by catheterization) and stool (mainly by enema washouts) is achievable in most. The hindgut, including the cecum and the usually rudimentary distal colon, should be saved and used as colon, not for urinary or vaginal reconstruction. In genetic boys, the authors continue to believe that gender assignment should depend on the likelihood for reconstructing an adequate phallus.