Structural study of the bladder in fetuses with prune belly syndrome.

AIMS: To study the bladder structure of fetuses with prune belly syndrome (PBS). METHODS: We studied three bladders obtained from three male fetuses with PBS and seven bladders from seven male fetuses without anomalies. Each bladder was dissected and embedded in paraffin, from which 5 µm thick sections were obtained and stained with Masson's trichrome (to quantify connective tissue and smooth muscle) and picrosirius red with polarization (to observe collagen). Immunohistochemistry with tubulin (Tubulin, beta III, Mouse Monoclonal Antibody) was applied to observe the bladder nerves. The images were captured with an Olympus BX51 microscope and Olympus DP70 camera. The stereological analysis was done with the Image Pro and Image J programs, using a grid to determine volumetric densities (Vv). Means were statistically compared using the Mann-Whitney test (P < 0.05). RESULTS: Quantitative analysis documented that smooth muscle fibers were significantly smaller (P = 0.04) in PBS fetuses (9.67% to 17.75%, mean = 13.2%) compared to control group (13.33% to 26.56%, mean = 17.43%). The analysis of collagen fibers showed predominance of green in the control group, suggesting collagen type III presence, and predominance of red in the in PBS fetal bladders, suggesting collagen type I presence in this group. The qualitative analysis of the nerves with immunohistochemistry with tubulin showed predominance of nerves in the control group. CONCLUSION: The bladder in PBS had lower concentrations of smooth muscle fibers, collagen type III, and nerves. These structural alterations can be one of the factors involved in urinary tract abnormality such as distended bladder in patients with PBS.

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

Urinary bladder malformations associated with bladder outlet obstruction are a frequent cause of progressive renal failure in children. We here describe a muscarinic acetylcholine receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malformation associated with a prune-belly-like syndrome, defining an isolated gene defect underlying this sometimes devastating disease. CHRM3 encodes the M3 muscarinic acetylcholine receptor, which we show is present in developing renal epithelia and bladder muscle. These observations may imply that M3 has a role beyond its known contribution to detrusor contractions. This Mendelian disease caused by a muscarinic acetylcholine receptor mutation strikingly phenocopies Chrm3 null mutant mice.

Prune belly syndrome: early management outcome of nine consecutive cases.

BACKGROUND: Prune belly syndrome (PBS) is a rare congenital malformation of unclear etiology. The disease progress and outcome in developing countries are not clear as most reports are isolated case reports. MATERIALS AND METHODS: A review of 9 patients managed for PBS in 5 years. RESULTS: There were 7 males and 2 females, aged 30 min-11 days (median = 5 days) at the time of presentation (a child presented as neonate, defaulted from follow-up and represented at 10 years of life). Their weights on admission were 2.5-4.2 kg (median = 3 kg). Maternal age range was 26-37 years (median = 32 years), with five mothers being above 30 years. Seven mothers had febrile illness in the first trimester and took antimalarial drugs or antibiotics. Intestinal malrotation was the most common associated anomaly. The degree of the anterior abdominal wall and the urinary tract morphology varies from patient to patient. Urinary tract anomalies were initially managed conservatively. Two infants however later had cutaneous ureterostomy due to worsening renal function and recalcitrant urinary tract infection (UTI). Four infants had abdominoplasty at the 2 nd week, 6 th week, 3 rd year and 10 th year of life. Seven orchiopexies were done. Four were done by Fowler-Stephen's method while the rest were via the inguinal route. Of the former, 3 testicles have normal volume 6 months after, whereas one atrophied. Post abdominoplasty, there was a significant reduction in the frequency of respiratory tract infection (RTI), UTI and post void urine volume in three infants. In addition, there was improved peer interaction and academic performance in the 10-year-old child. One infant died of pulmonary hypoplasia and two others from worsening urosepsis and progressive renal failure. CONCLUSION: PBS presents with a spectrum of features. Initial conservative management of the urinary tract was beneficial. Abdominoplasty and orchiopexy have both physiological and improved quality of life benefits. Early Parental education helped in reducing defaults from follow-up.

R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.

Mutations in ACTA2 (smooth muscle cell-specific isoform of α-actin) lead to a predisposition to thoracic aortic aneurysms and other vascular diseases. More recently, the ACTA2 R179H mutation has been described in individuals with global smooth muscle dysfunction. We report a patient heterozygous for the mutation in ACTA2 R179H who presented with megacystis at 13 weeks gestational age and, at birth, with prune-belly sequence. He also had deep skin dimples and creases on his palms and soles, a finding not previously described but possibly related to ACTA2. To our knowledge, this is the first report of the R179H mutation in ACTA2 in a child with prune-belly sequence. We think the R179H mutation in ACTA2 should be included in the differential diagnosis of individuals presenting with the sequence without an identified mechanical obstruction. Furthermore, as ACTA2 R179H has been reported in patients with severe vasculomyopathy and premature death, we recommend that molecular testing for this mutation be considered in fetuses presenting with fetal megacystis with a normal karyotype, particularly if the bladder diameter is 15 mm or more, to allow expectant parents to make an informed decision.

Nephrogenic adenoma of the bladder in a prune belly syndrome patient: case report and review of the literature.

Nephrogenic adenoma (NA) is a rare lesion of the urinary tract widely considered to be a metaplastic response to urothelial injury. Herein, we present the case of an 8-year-old male with prune belly syndrome who presented with gross hematuria. Investigation revealed a bladder mass; however, upon cystoscopic examination, multiple polypoid lesions were identified. Microscopic examination revealed NA of the bladder. To our knowledge, this is the second reported case of NA of the bladder in association with prune belly syndrome.

Prune Belly Syndrome in the Pig (Sus scrofa domesticus).

Prune belly syndrome (PBS) is a rare multisystemic disease characterized by a deficiency of abdominal wall musculature, urinary tract anomalies and bilateral intra-abdominal testes. PBS in females is called pseudo prune belly syndrome (PPBS) and is characterized by abdominal wall laxity and urinary tract defects. We report three male and one female stillborn piglets with abdominal distension, hypoplastic abdominal wall musculature and urinary tract anomalies. Bilateral cryptorchidism was observed in the males. In addition, two males showed anomalous liver lobulation, one of them had an anomalous spleen and the other an atrial septal defect. As far as we know, neither PBS nor PPBS have been reported in veterinary literature until now.

Anterior and posterior rectus abdominis sheath stiffness in relation to diastasis recti: Abdominal wall training or not?

INTRODUCTION: This study explores the anatomical relation of the rectus abdominis muscles with the anterior and posterior rectus sheaths. The elastic behavior of these fascial sheets is also assessed. Both of these analyses form an anatomic-biomechanical basis for diagnosis and treatment, especially in relation to diastasis recti abdominis (DRA). METHOD: Fundamental observational, biomechanical study. Seven post-mortem, embalmed human specimens were dissected. The abdominal muscles and the fascial sheets of the abdominal wall were dissected. 4 × 4 cm samples of the anterior and posterior rectus sheaths were loaded in longitudinal and transverse direction, while recording elongation by means of a displacement sensor. The main outcome measures were anatomical descriptions and elongation of fascia samples in mm (mean and standard ±â€¯deviation). RESULTS: In longitudinal direction the posterior rectus sheath samples stretched over 1.67 ±â€¯0.48 mm, while in transverse direction the mean stretch was 0.29 ±â€¯0.18 mm (p = 0.001). In contrast, no significant difference between longitudinal (0.78 ±â€¯0.43 mm) and transversal displacement (0.50 ±â€¯0.23 mm) was observed in the anterior rectus sheath (p = 0.56). DISCUSSION AND CONCLUSION: The posterior rectus sheath is functionally more related to the transverse abdominis muscle than to the rectus abdominis muscle. From this connection, in combination with the specific stiffness of the posterior fascia in the lateral direction, it is assumed that the transverse abdominis muscles play an important role in the etiology but also in reduction of DRA. The transverse abdominis and rectus abdominis muscles collaborate in support of the abdominal wall.

Gonadal Function and Reproductive System Anatomy in Postpubertal Prune-Belly Syndrome Patients.

OBJECTIVE: To gain insight into the causes of infertility in Prune Belly Syndrome (PBS) by evaluating reproductive system anatomy and gonadal function in a cohort of postpubertal PBS patients. METHODS: We contacted all PBS patients 14 years old or older treated and followed at our institution. Age at orchiopexy, type of orchiopexy (with or without ligation of gonadal vessels), testicular volumes and positions were evaluated. Pelvic magnetic resonance imaging (to assess prostate size, seminal vesicles, and vas) and hormonal profile were ordered. Sperm analysis and analysis of urine after masturbation were performed after informed consent. RESULTS: Fifteen patients were included in this study. Mean age was 19.2 years. Mean age at orchiopexy was 18 months. Fourteen patients (93.3%) had normal and orthotopic testes. Mean testicular volume was 6.9 cc. Eight patients collected semen, 5 of them (62.5%) had spermatozoa in the specimen and motile sperm was found in 4 (50%). Mean hormone levels were LH: 5.3 mg/dL, FSH: 6.9 mg/dL, testosterone 531 mg/dL. Magnetic resonance imaging revealed hypoplastic prostates in 66.6% and unilateral seminal vesicle absence in 66.6%. No vasal abnormality was noted. CONCLUSION: Patients with PBS may have normal sexual hormonal levels. Motile spermatozoa were found in half of the patients. Our study highlights a high prevalence of prostate and seminal vesicle abnormalities that may represent an important cause for their infertility.

An Autopsy Case Report: Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence.

Prune belly syndrome (PBS) is characterized by a classical triad of congenitally absent abdominal muscles, bilateral cryptorchidism, and a malformed urinary tract. Urorectal septum malformation sequence (URSM) is identified with the absence of urogenital and anal openings. This case report describes a 15-week-old female fetus with megacystis, ascites and oligohydramnios in a 19-year-old nulliparous woman. The patient underwent preterm labor at the 33rd gestational week and delivered a female newborn weighing 2250 grams who died three days later due to progressive respiratory insufficiency. To the best of our knowledge, this is the third case of an overlap between PBS and URSM in literature. Such an overlap refers to the existence of left renal agenesis, right renal cystic dysplasia, bilateral club foot and lumbar scoliosis as well as the absence of abdominal wall muscles, internal genital organs, urethral, vaginal and anal openings. This case report aims to remind the obstetricians about the concurrent occurrence of PBS with URSM and its poor prognosis.

Collagen I and III in women with diastasis recti.

OBJECTIVES: Interest in elucidating the etiology of hernias has encouraged countless studies of musculoaponeurotic structures in individuals with and without hernias. Studies of hernia patients have firmly demonstrated a correlation between hernias and collagen alterations in their fascia. Diastasis recti is an increased width of the abdominal midline that is exclusively composed of interlacing aponeurotic expansions of the anterolateral abdominal muscles. The condition is common among women undergoing abdominoplasty, and many factors, not only mechanical, play a role. The goal of this study is to evaluate and compare collagen type I and III levels in the midline fascia of women with and without diastasis recti to report their possible influence on this condition. METHODS: This is a case-control study nested within a surgical cohort of 18 women with diastasis recti and 18 women without the condition (cases and controls, respectively). Fascia from the midline of the abdominal wall was collected and analyzed through immunohistochemistry using polyclonal antibodies to collagen type I and III. RESULTS: Both type I and type III collagen were less abundant in women with diastasis recti than in those without the condition, and the difference was statistically significant (p<0.001). CONCLUSION: Low collagen type I and type III levels in the midline of the abdominal wall may play a key role in the development of diastasis recti.

Unique features of prune belly syndrome in laparoscopic surgery.

BACKGROUND: The aim of this study was to evaluate the laparoscopic abdominal access modifications in children with prune belly syndrome undergoing a first stage Fowler-Stephens procedure. STUDY DESIGN: Eleven consecutive boys underwent a transperitoneal laparoscopic bilateral first stage Fowler-Stephens procedure. Patient age ranged from 1.5 to 3 years (mean age 2.2 years). In these patients, the floppy abdominal wall required a modified approach with regard to access technique, insufflation pressures, and work port stabilization methods. Duration of the procedures and intraoperative technical challenges encountered were prospectively documented. RESULTS: Mean operative time was 40 minutes (range 30 to 75 minutes), and all procedures were completed without any complications. Forceful insertion of ports was not possible, and all ports were introduced under complete open access. Larger volumes of carbon dioxide were used in the initial part of our series, when the ports were not sutured to the abdominal wall. An abdominal pressure of 8 mmHg was maintained in all patients and was considered optimal for the procedures. Short laparoscopy instruments (240 mm) were unsuitable for the procedures and had to be replaced by longer instruments (310 mm or 430 mm). CONCLUSIONS: Technical modifications are required to the approach in laparoscopic abdominal access to overcome the challenges posed by the floppy abdominal wall in prune belly patients. Open access, suture fixation of the optic and work ports, use of threaded sleeve ports, and use of proper length of laparoscopy instruments are valuable modifications to overcome the technical hurdles posed by these patients.

Embarazo Gemelar con Discrepancia Morfologíca. Complejo Malformación y Obstrucción Uretral: diagnóstico prenatal / Twin Pregnancy with Morphologic Discrepancy. Complex Malformation and Urethral Obstruction: prenatal diagnosis

Presentamos un caso de embarazo gemelar, monocorial-bianmiotico con discrepancias morfológicas, diagnóstico de malformación y obstrucción uretral prenatal y diagnóstico postnatal de Síndrome de Prune-Belly. Feto A: Dilatación macroscópica del sistema colector con vejiga grande con paredes finas, hidroureter bilateral , dilatación de la uretra, parenquima renal aumentado de tamaño. Feto B: sin alteraciones morfológicas. Postnatal se observó en feto A abdomen flácido y pastoso, ano imperforado, megavejiga e insuficiencia renal

We present a case of twin pregnancy, monocorial-bi-mixtic with morphological discrepancies, diagnosis of malformation and prenatal urethral obstruction and postnatal diagnosis of Prune-Belly syndrome. Fetus A: Macroscopic dilation of the collecting system with large bladder with fine walls, bilateral hydroureter, dilation of the urethra, renal parenchymal increased in size. Fetus B: without morphological alterations. Postnatal was observed in fetus at flaccid and pasty abdomen, imperforated anus, megavejiga and renal failure.

A case of prune belly syndrome.

Prune belly syndrome (PBS) is a rare congenital disorder characterized by deficient abdominal wall muscles, urinary tract malformation, and, in males, cryptorchidism. We present a case of PBS in China. The patient was a newborn baby boy who had wrinkled, "prune-like" abdominal skin, bilateral cryptorchidism, and urinary system malformation, complicated with hypoplasia of the lung and branch of the coronary artery-right ventricular fistula. His kidney function was inadequate. The patient subsequently died at age 28 days due to septicemia from a severe urinary tract infection.

Clear cell adenocarcinoma of the bladder with intravesical cervical invasion.

A 26-year-old woman with a complicated urological and gynecological history with uterine didelphys with bilaterally inserting intravesical cervical oses presented with cyclical haematuria. Work up revealed a mass in the ectopic cervical os and adjacent bladder wall. Subsequent resection confirmed a clear cell adenocarcinoma of urological origin with invasion into neighbouring os.

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. Recent studies indicate that heterozygous variants in ACTG2, which codes for a smooth muscle actin, cause MMIHS. However, such variants do not explain MMIHS cases that show an autosomal recessive mode of inheritance. We performed exome sequencing in a newborn with MMIHS and prune belly phenotype whose parents are consanguineous and identified a homozygous variant (c.3598A>T: p.Lys1200Ter) in MYH11, which codes for the smooth muscle myosin heavy chain. Previous studies showed that loss of Myh11 function in mice causes a bladder and intestinal phenotype that is highly reminiscent of MMIHS. All together, these observations strongly suggest that loss-of-function variants in MYH11 cause MMIHS. The documentation of variants in ACTG2 and MYH11 thus points to the involvement of the contractile apparatus of the smooth muscle in MMIHS. Interestingly, dominant-negative variants in MYH11 have previously been shown to cause thoracic aortic aneurism and dilatation. Different mechanisms of MYH11 disruption may thus lead to distinct patterns of smooth muscle dysfunction.

Prune belly syndrome and retroperitoneal germ cell tumor.

The prune belly syndrome is a congenital set of anomalies that includes cryptorchidism. Despite the known risk of testicular tumors in cryptorchid testes, what may be the first case of a germ cell tumor complicating the prune belly syndrome is described herein.

Intrauterine closure of the ductus arteriosus in association with prune belly syndrome.

Findings from the autopsy of a preterm neonate with in utero anatomic closure of the ductus arteriosus in association with prune belly syndrome are presented. Marked bladder distention, a major feature of prune belly syndrome, has secondary mechanical effects on fetal thoracic organs, and the fetus might have been exposed to chronic intrauterine stress. This could have affected the prenatal closure of the ductus arteriosus, although no definitive conclusion can be made.

Phimosis as a cause of the prune belly syndrome: comparison to a more common pattern of proximal penile urethra obstruction.

The pathogenesis of the prune belly syndrome (PBS) remains controversial, but two theories predominate. The first theory supports an obstructive phenomenon early in gestation leading to irreversible damage to the genitourinary tract and abdominal wall. The second theory suggests mesodermal injury between the 6th and 10th weeks of gestation as the primary abnormality. This paper reports of two fetuses with the PBS phenotype that were examined postmortem at our institution. Thorough examination of the lower urinary tract allowed demonstration of anatomic obstruction of the urethra in both cases. One case illustrated a relatively common pattern of proximal penile urethral obstruction, a flap-like obstruction between the prostatic and penile urethra. The other case provided what we believe to be the first description of PBS caused by severe phimosis.

Etiology of prune belly syndrome: evidence of megalocystic origin in an early fetus.

BACKGROUND: Prune belly syndrome is a rare and complicated condition affecting the genitourinary organs and abdominal wall. The etiology of abdominal musculature deficiency in prune belly syndrome is controversial. We present a case that should elucidate the etiology of this syndrome. CASE: A spontaneously aborted fetus at 12 weeks' gestation with an early stage of prune belly syndrome was investigated by necropsy and light and electron microscopy. Megalocystis resulting from urethral atresia was diagnosed. There was no hydroureter or hydronephrosis, and both light and electron microscopy demonstrated evidence of development of the abdominal musculature. Both testes were elevated as a result of the megalocystis. CONCLUSION: These findings suggest that hypoplasia of the abdominal musculature and cryptorchidism might develop secondary to the presence of chronic megalocystis in this syndrome.

Testicular histology in triad syndrome.

A twenty-year-old patient with the triad syndrome had a Sertoli-cell-only histologic appearance in his intra-abdominal testes. Testicular histology was then reviewed in 6 other boys with the triad syndrome, and no spermatogonia were seen. While fertility is doubtful in patients with this syndrome, they additionally may not be at risk for germ cell testicular tumors.