Prune-belly syndrome in Africa: An analysis and systematic review of cases, etiology, treatment, and outcomes

Background: Prune-belly syndrome is a rare congenital disorder characterized by a spectrum of three anomalies: bilateral undescended testes, dilated urinary tract, and anterior abdominal muscle deficiency. Objectives: In developing countries, inadequate access to health care may affect treatment and outcomes of prune-belly syndrome. This study’s goal was to review the anatomical features, etiology, genetics, management, and outcomes of cases in Africa. Methods: PubMed was searched to identify case reports and case studies describing prune-belly syndrome in Africa. Data collected from each study included the number of cases, age at diagnosis, sex, description of the abdominal muscles, testes, and urinary tract, as well as associated anomalies, management, and long-term outcomes. Results: A total of 16 publications that reported 58 cases in African countries were included. The prevalence of female patients (15.5%) was higher than in developed countries (3%). The abdominal muscles were deficient in all cases, and bilateral cryptorchidism was present in nearly all males (96%). Distension of the bladder was common, with normal anatomy reported in only one case. Bilateral hydroureters and hydronephrosis also were present in the majority of cases. Only six cases (10.3%) had no associated anomalies, such as musculoskeletal or cardiovascular. Karyotyping was performed in only three cases (5.2%) because of limited hospital facilities. Six parents (10.3%) declined treatment for their children, 12 cases (20.7%) were managed conservatively, and 25 (43.1%) received surgical intervention. Patients’ mortality rate was higher than in developed countries. Conclusion: Diagnosis and treatment of prune-belly syndrome remains a challenge in Africa, in which multiple factors, such as access to health care and cultural beliefs, affect mortality rates and outcomes. Patient education and support groups may improve compliance with treatment. Level of evidence: Not applicable for this multicenter audit.

[1]  J. Balfe,et al.  Peritoneal Dialysis in the Prune Belly Syndrome , 1994, Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis.

[2]  F. Sampaio,et al.  Study of Testicular Structure in Fetuses with Prune Belly Syndrome , 2017, Advances in urology.

[3]  Weining Lu,et al.  Lower urinary tract development and disease , 2013, Wiley interdisciplinary reviews. Systems biology and medicine.

[4]  R. Ratard,et al.  Prune belly syndrome co-existing with the VACTERL-complex in a background of antenatal ingestion of traditional concoction. , 2000, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

[5]  J. Eagle,et al.  Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: A syndrome. Report of 9 cases. , 1950, Pediatrics.

[6]  E. Disu,et al.  Three cases of prune belly syndrome at the Lagos State University Teaching Hospital, Ikeja. , 2018, Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia.

[7]  I. Olkin,et al.  Meta-analysis of observational studies in epidemiology - A proposal for reporting , 2000 .

[8]  D. Roth,et al.  Vesicoamniotic Shunting Improves Outcomes in a Subset of Prune Belly Syndrome Patients at a Single Tertiary Center , 2018, Front. Pediatr..

[9]  P. L. Townes,et al.  Concordant prune belly syndrome in monozygotic twins. , 2000, Urology.

[10]  A. Adeyokunnu,et al.  Prune belly syndrome in two siblings and a first cousin. Possible genetic implications. , 1982, American journal of diseases of children.

[11]  Bhagyam Valappil,et al.  Exploration of the fetus with gross anomaly: a case of pseudo prune belly syndrome , 2018, Anatomy & cell biology.

[12]  K. Awad,et al.  It's not All Doom and Gloom: Prune Belly Syndrome Associated with VACTERL , 2016, Journal of neonatal surgery.

[13]  K. Johnin,et al.  Histology of the fetal prune belly syndrome with reference to the efficacy of prenatal decompression , 2000, International journal of urology : official journal of the Japanese Urological Association.

[14]  N. Pankratz,et al.  Rare copy number variants identified in prune belly syndrome. , 2017, European journal of medical genetics.

[15]  L. Odum,et al.  Risk factors in the development of prune belly syndrome in a Nigerian child , 2012 .

[16]  S. Alam,et al.  Prune Belly Syndrome: Errors in Management and Complications of Treatment , 2014 .

[17]  S. Ellard,et al.  Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome. , 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[18]  M. Aloni,et al.  A First Description of Prune Belly Syndrome in Central Africa. , 2015, Pediatrics and neonatology.

[19]  T. Teka The prune belly syndrome: triad syndrome. , 1993, Ethiopian medical journal.

[20]  T. Tadesse,et al.  Unusual presentation of prune belly syndrome: a case report , 2017, Journal of Medical Case Reports.

[21]  M. Srougi,et al.  27 years of experience with the comprehensive surgical treatment of prune belly syndrome. , 2015, Journal of pediatric urology.

[22]  R. Ger,et al.  Management of the abdominal wall defect in the prune belly syndrome by muscle transposition: An 18‐year follow‐up , 2000, Clinical anatomy.

[23]  H. Grover,et al.  Pseudo Prune Belly Syndrome: Diagnosis Revealed by Imaging – A Case Report and Brief Review , 2017, Polish journal of radiology.

[24]  J. Fryns,et al.  Prune-belly anomaly and large interstitial deletion of the long arm of chromosome 6. , 1991, Annales de genetique.

[25]  M. Pektaş,et al.  An Autopsy Case Report: Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence. , 2019, Turk patoloji dergisi.

[26]  G. Tonni,et al.  Prune-Belly Syndrome: Case Series and Review of the Literature Regarding Early Prenatal Diagnosis, Epidemiology, Genetic Factors, Treatment, and Prognosis , 2013, Fetal and pediatric pathology.

[27]  L. Mutesa,et al.  Prune-Belly Syndrome: A Case Report from Rwanda , 2012 .

[28]  J. Barone,et al.  Patterns of inheritance in familial prune belly syndrome. , 2005, Urology.

[29]  J. Hutson,et al.  Prune-belly syndrome: ongoing controversies regarding pathogenesis and management. , 1996, Seminars in pediatric surgery.

[30]  Jaewon Kim,et al.  Anesthetic experience of a patient with Prune-belly syndrome , 2014, Korean journal of anesthesiology.

[31]  J. Fryns,et al.  Pathogenesis of the prune-belly syndrome: a functional urethral obstruction caused by prostatic hypoplasia. , 1984, Pediatrics.

[32]  E. Ives The abdominal muscle deficiency triad syndrome--experience with ten cases. , 1974, Birth defects original article series.

[33]  E. Cazorla,et al.  Prune belly syndrome: early antenatal diagnosis. , 1997, European journal of obstetrics, gynecology, and reproductive biology.

[34]  S. Mercadante,et al.  Opioids and renal function. , 2004, The journal of pain : official journal of the American Pain Society.

[35]  J. Manivel,et al.  Development of renal failure in children with the prune belly syndrome. , 1991, The Journal of urology.

[36]  I. Chatzipapas,et al.  Prenatal diagnosis of prune-belly syndrome at 13 weeks of gestation: case report and review of literature , 2010, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

[37]  E. Ameh,et al.  Pseudoprune belly syndrome; its' associations and management challenge in a developing country: a case report. , 2008, Nigerian journal of medicine : journal of the National Association of Resident Doctors of Nigeria.

[38]  F. D. Stephens,et al.  Pathogenesis of the prune belly syndrome. , 1994, The Journal of urology.

[39]  M. Aliyu,et al.  Prune belly syndrome and associated malformations. A 13-year experience from a developing country. , 2003, The West Indian medical journal.

[40]  W. Costa,et al.  Structural study of the bladder in fetuses with prune belly syndrome , 2018, Neurourology and urodynamics.

[41]  L. Baker,et al.  Phenotypic severity scoring system and categorisation for prune belly syndrome: application to a pilot cohort of 50 living patients , 2018, BJU international.

[42]  T. Ogunlesi,et al.  Prune belly syndrome in Sagamu: Report of three cases with typical and atypical features , 2008 .

[43]  V. Modekwe,et al.  Prune belly syndrome: early management outcome of nine consecutive cases. , 2014, Nigerian journal of clinical practice.

[44]  D. Brandon,et al.  Prune Belly Syndrome: A Focused Physical Assessment , 2007, Advances in neonatal care : official journal of the National Association of Neonatal Nurses.

[45]  Amacker Ea,et al.  An association of prune belly anomaly with trisomy 21. , 1986 .

[46]  K. Ikeda,et al.  CONGENITAL DEFECT IN THE MUSCULATURE OF THE ABDOMINAL WALL: REPORT OF A CASE , 1927 .

[47]  F. Sampaio,et al.  Structural study of gubernaculum testis in fetuses with prune belly syndrome. , 2014, The Journal of urology.

[48]  A. Bosenberg Anaesthesia for prune belly syndrome , 2004 .

[49]  B. Torchia,et al.  Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome. , 2010, American journal of perinatology.

[50]  F. Grass,et al.  An association of prune belly anomaly with trisomy 21. , 1986, American journal of medical genetics.

[51]  Peter Nürnberg,et al.  Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. , 2011, American journal of human genetics.

[52]  P. Conlon,et al.  Clinical manifestations of prune belly syndrome. , 2016, Clinical medicine.

[53]  Eagle Jf,et al.  Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: A syndrome. Report of 9 cases. , 1950 .

[54]  D. Mininberg,et al.  Subcellular muscle studies in the prune belly syndrome. , 1973, The Journal of urology.

[55]  R. Sanni,et al.  [The treatment of prune-belly syndrome at the University Hospital Center at Abidjan (Treichville)]. , 1998, Annales d'urologie.

[56]  A. Kirsch,et al.  Health-related Quality of Life in Children With Prune-belly Syndrome and Their Caregivers. , 2016, Urology.

[57]  R. Ellidir,et al.  Characteristics and outcome of hemolytic uremic syndrome in Sudanese children in a single Centre in Khartoum State. , 2017, Sudanese journal of paediatrics.

[58]  R. Garrett,et al.  Twenty-five-year experience with prune belly syndrome. , 1978, Urology.

[59]  W. Newman,et al.  Genetics of human congenital urinary bladder disease , 2014, Pediatric Nephrology.

[60]  R. Jennings Prune belly syndrome. , 2000, Seminars in pediatric surgery.

[61]  T. Ogunlesi,et al.  Prune Belly Syndrome In A Nigerian Child , 2004 .

[62]  P. Igarashi,et al.  Genetic basis of prune belly syndrome: screening for HNF1β gene. , 2012, The Journal of urology.

[63]  T. Coulibaly,et al.  [Imaging of pediatric urinary tract malformations: a series of 32 cases]. , 2006, Le Mali medical.

[64]  A. Kirsch,et al.  Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography. , 2016, Journal of pediatric urology.

[65]  Y. Mehta,et al.  Quadratus lumborum block for post-operative pain relief in patient with Prune belly syndrome , 2017, Indian journal of anaesthesia.

[66]  W. Berdon,et al.  Prune belly syndrome: 35 years of experience. , 1987, The Journal of urology.

[67]  A. Retik,et al.  Contemporary epidemiology and characterization of newborn males with prune belly syndrome. , 2010, Urology.

[68]  Michael F. Wangler,et al.  Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome , 2014, PLoS genetics.

[69]  A. Holland,et al.  Prune belly syndrome , 2011, Pediatric Surgery International.

[70]  P. O'kelly,et al.  Deceased-donor kidney transplantation in prune belly syndrome. , 2007, Urology.

[71]  P. P. de Lima,et al.  Prune-belly syndrome: an autopsy case report , 2014, Autopsy & case reports.

[72]  M. Brodsky,et al.  Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. , 2014, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

[73]  G. Ofovwe,et al.  Familial prune belly syndrome in a Nigerian family. , 2012, Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia.

[74]  A. Adeyokunnu,et al.  Prune belly syndrome. A study of ten cases in Nigerian children with common and uncommon manifestations. , 1975, East African medical journal.

[75]  F. Schaefer,et al.  Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry , 2017, Pediatric Nephrology.

[76]  D. Shimelis,et al.  PATTERN AND OUTCOME OF RENAL DISEASES IN HOSPITALIZED CHILDREN IN TIKUR ANBESSA SPECIALIZED TEACHING HOSPITAL, ADDIS ABABA, ETHIOPIA. , 2016, Ethiopian medical journal.

[77]  J. Spranger,et al.  Etiology and pathogenesis of the prune belly syndrome. , 1981, Kidney international.

[78]  D. Clayton,et al.  Lower urinary tract obstruction in the fetus and neonate. , 2014, Clinics in perinatology.

[79]  Y. Kakuta,et al.  Living-related kidney transplantation with catheterizable urinary conduit in prune belly syndrome: A case report , 2018, International journal of surgery case reports.

[80]  H. Panitch Pulmonary complications of abdominal wall defects. , 2015, Paediatric respiratory reviews.

[81]  M. Stringer,et al.  Fetal megacystis: A systematic review. , 2017, Journal of pediatric urology.

[82]  Abdelmoneim E. M. Kheir,et al.  Prune belly syndrome: A report of 15 cases from Sudan. , 2017, Sudanese journal of paediatrics.

[83]  W. Cromie,et al.  Implications of prenatal ultrasound screening in the incidence of major genitourinary malformations. , 2001, The Journal of urology.

[84]  S. Kacem,et al.  Prune belly syndrome: Approaches to its diagnosis and management. , 2018, Intractable & rare diseases research.

[85]  A. Kirsch,et al.  Clinical manifestations and management of prune-belly syndrome in a large contemporary pediatric population. , 2015, Urology.

[86]  I. Bernstein,et al.  Impact and frequency of extra-genitourinary manifestations of prune belly syndrome. , 2015, Journal of pediatric urology.

[87]  S. Kapoor "Pseudo-prune belly syndrome": An under-reported phenotypic variant of prune belly syndrome. , 2017, Journal of pediatric urology.

[88]  S. Giuliani,et al.  Renal transplantation in prune-belly syndrome , 2004, Transplant international : official journal of the European Society for Organ Transplantation.

[89]  B. Kogan,et al.  The prune-belly syndrome: current insights , 1995, Pediatric Nephrology.

[90]  Z. Habib,et al.  Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence in a Female Newborn with Absent Perineal Openings , 2014, Case reports in surgery.