Prenatal ultrasound diagnosis of anterior abdominal wall defects in sub Saharan Africa; simple but often missed

Background: Congenital anterior abdominal wall defects (AAWD) is a spectrum of abdominal wall defects that includes omphalocele, gastroschisis, bladder exstrophy, cloacal exstrophy, prune belly syndrome and pentalogy of Cantrell. Early Prenatal diagnosis of AAWD provides opportunity for abnormal karyotypes screening and planned delivery in a specialized centre. Ultrasound can detect these defects during pregnancy. This study aims to evaluate the detection rate of AAWD during routine obstetric ultrasonography in our region.Methods: A retrospective study of all patients that presented with AAWD to our centre from January 2008 to July 2020. Data included patient’s age, sex, birth weight, diagnosis, resuscitation time, outcome, maternal age, parity and antenatal ultrasound scan (USS) records. Antenatal USS before 12 weeks only, were excluded. Data analysed using excel.Results: Of the 140 with AAWD, 84.29% had omphalocele, 10% gastroschisis, 2.14% prune belly syndrome and 0.71% each with bladder exstrophy, cloacal exstrophy and pentalogy of Cantrell. There were 123 booked pregnancies. Majority (112) had antenatal care elsewhere while 11 attended our Centre. Ultrasonography of 108 pregnancies scanned at12 weeks or beyond, had 4 confirmed prenatal diagnosis of AAWD. All done in our centre. Mean gestational age at diagnosis was 24weeks. Outcome was rupture1 (25%) and 25% mortality (prenatally diagnosed) and 51.92% mortality for patients with missed diagnosis.Conclusions: Our obstetric ultrasound detection rate of AAWD is very low. There is a need for improvement in training to improve perinatal care of these defects.

A wretched condition

Although rare, cleft bladder was known to the ancients: the infants did not die after birth, but grew up incontinent. Combined with abnormal genitalia, the malformation was confused with hermaphroditism, the most loathed congenital anomaly. Three grades were discerned in the 17th century: epispadias, where the urethra opens at the anterior side of the penis; bladder exstrophy with open anterior bladder wall; and cloacal exstrophy with common outlet for stool and urine. Explanations of its origin included obstructed urethra, short umbilical cord, and bursting allantois, bladder, abdominal wall, or cloacal membrane. As the incontinent children suffered from painful inguinal eczema, urine collecting devices were constructed from copper and tin, and from rubber once vulcanization was invented. Correcting operations were attempted from 1852 with limited success. Today, stepwise corrective surgery begins by closing the bony pelvis, bladder, and the abdominal wall, followed by epispadias repair and penis remodelling. No controlled trials or international protocols have come forth, and the long-term prognosis is all but satisfying.

Patterns of spinal cord malformation in cloacal exstrophy

OBJECTIVE The objective of this study was to assess the prevalence and spectrum of spinal dysraphism in a cohort of children with cloacal exstrophy (CEX) using MRI. METHODS Children with CEX presenting between 1999 and 2019 with baseline spinal MRI were included. The images were reviewed in consensus to assess the type of dysraphism. The dysraphisms were initially reviewed and described based on their descriptive anatomy, and then classified according to anomalies of gastrulation, primary neurulation, or secondary neurulation. RESULTS Thirty-four children were included. Thirty-three of these children had closed spinal dysraphism, and 1 had a normal spine. Of the 33 cases of closed spinal dysraphism, the conus and/or filum terminale were involved in all cases. The most common malformations were spinal lipoma (n = 20) and terminal myelocystocele (n = 11). The lipomas were heterogeneous: 4 dorsal, 9 transitional, 4 chaotic, and 3 terminal. A large subgroup (10/20, 50%) within the lipomas had an unusual morphology of noncontiguous double lipomas, the proximal fat related to the conus and the distal fat within the filum. These were difficult to characterize using existing classifications. In 2 cases, only a thickened filum was noted. The majority of these malformations were compatible with a disorder of secondary neurulation. CONCLUSIONS Complex spinal dysraphisms are consistently associated with CEX. The unusual dysraphism patterns found in this group of patients highlight the limitations of current embryological classifications. Given the propensity for neurological deterioration in this group of patients, spinal MRI should be routinely performed. The type and distribution of malformations seen have implications for the wider understanding of the pathogenesis and classification of lumbosacral lipomas.

Exstrophy-Epispadias Complex Variants: A Hybrid Case

The term exstrophy-epispadias complex refers to a group of midline defects ranging from epispadias to cloacal exstrophy. Bladder exstrophy is the most frequent malformation of this spectrum and it can present as a classical or a variant form. We report a case of a hybrid bladder exstrophy variant having some characteristics of both a duplicate bladder exstrophy and a superior vesical fistula.

Percutaneous cystolithotripsy in the reconstructed bladder of cloacal exstrophy: A case report

Background: Bladder stones are common after bladder augmentation. The management of bladder stones is challenging, especially in patients who underwent complex urinary tract reconstruction. Case Presentation: We report our experience of percutaneous cystolithotripsy after bladder neck closure, creation of a catheterizable channel, and ileal bladder augmentation in a girl with cloacal exstrophy. Conclusion: Percutaneous cystolithotripsy is a safe, effective, and minimally invasive treatment option for bladder stones after bladder neck closure and the creation of a continent catheterizable channel.

Orthopaedic Management of Bladder Exstrophy

Bladder exstrophy is an embryologic malformation that affects urogenital and skeletal systems. Non-operative treatment of this rare problem is impossible. Urogenital reconstructions can be facilitated by orthopedic procedures. These reconstructions can be performed in a single stage as a complete repair or multi-stage approaches. The goal of the treatment is closure of the bladder and abdominal wall for the achievement of continence, preservation of renal functions, and cosmetic and functional reconstruction of genital organs. Orthopedic procedures are performed to decrease the tension that complicates the bladder and abdominal wall closure by approximating the pubic rami to achieve a secure closure and a low recurrence rate. Surgical interventions consist of the approximation of the pubic rami with different materials such as suture materials and plaque or the application of different osteotomy types such as posterior iliac, anterior pelvic (pubic), diagonal iliac, horizontal iliac and posterior pelvic resection osteotomies. The age of the patient, the amount of pubic diastasis and history of previous operations that the patient has undergone should be considered during the operation planning. Pubic rami can be approximated without performing pelvic osteotomy in patients who are operated within the first 72 hours after birth. But, osteotomy is required in children older than 2 years of age with severe pubic diastasis, concomitant cloacal exstrophy and unsuccessful operation history. The surgical team should have enough knowledge and experience to perform different osteotomy types in case of need to combine anterior and posterior iliac osteotomies. With these multidisciplinary approaches, much more successful outcomes could be achieved.