Diagnosis Of Prune Belly Syndrome Research Articles

Современные подходы к диагностике и ведению больных с синдромом сливового живота (Prune belly syndrome)

Prune belly syndrome (PBS) is a congenital disorder that is characterized by hypoplasia (aplasia) of the anterior abdominal wall muscles, various urinary tract anomalies, and bilateral cryptorchidism. The prevalence of PBS is approximately 1:40,000-1:45,000, and it is commonly diagnosed in male neonates. The possible genetic determinism of the disease is explained by the identification of 14 mutations in live-born children with PBS. Fetal ultrasound allows the diagnosis of PBS at 12 weeks’ gestation. In prolongation of pregnancy, along with specialized care and intensive care in neonatal units, renal replacement therapy, children with PBS need correction of diagnosed malformations and concomitant surgical pathology. This article presents current features of a multidisciplinary approach to the diagnosis and management of patients with this pathology to timely correct the condition and improve long-term outcomes. Key words: prune belly syndrome, megacystis, megaureter, cryptorchidism, abdominal muscle hypoplasia, wrinkled abdominal wall, renal replacement therapy

Case Report on Prenatal Diagnosis of Prune Belly Syndrome – At Severe End of Spectrum

A 22-year-old primigravida, a North Indian woman was referred for an antenatal ultrasound for unusually large abdominal girth, compared to the LMP estimated gestational age of 24 weeks. The mother belonged to a remote rural area and was from low socioeconomic strata. There was no history of a prior antenatal check-up or an ultrasound scan. The patient had a history of consumption of unspecified over-the-counter drugs for which no data was available. No obvious history of radiation exposure or fever with rashes in the current pregnancy was present. The patient had no history of chronic illness or any significant congenital anomaly in her family.

Challenging diagnosis of prune belly syndrome antenatally: a case report

BackgroundPrune belly syndrome is a rare congenital condition of uncertain etiology.It is characterized with a triad of abdominal distension due to deficient abdominal wall, genitourinary tract anomalies, and musculoskeletal anomalies. This condition varies in its severity which makes diagnosis challenging during early antenatal scanning.Case presentationWe reported a severe phenotype of prune belly syndrome which was not fully suspected in a 29-year-old Saudi woman was G4T2P0A1L2 at 21 weeks of gestation at the time of early antenatal presentation; however, it became apparent during diagnosis at a subsequent follow-up scan during advanced gestational age.ConclusionWe conclude that suspicion of such anomalies through an early antenatal scan require an urgent further follow-up scan in a tertiary center. The referral to the tertiary center must be to an experienced ultrasonographer and maternal–fetal medicine specialist for a decision to be made antenatally regarding the course of pregnancy and post-delivery management based on the severity of the condition.

Unusual presentation of prune belly syndrome: a case report

BackgroundPrune belly syndrome is a rare congenital malformation of unknown etiology, with the following triad of findings: abdominal muscle wall weakness, undescended testes, and urinary tract abnormalities. In most cases, detection of prune belly syndrome occurs during neonatal or infancy period. In this case report, we describe a 12-year-old boy from Ethiopia with the triad of findings of prune belly syndrome along with skeletal malformations. We are unaware of any previous report of prune belly syndrome in Ethiopia.Case presentationA 12-year-old Amhara boy from the Northwest Gondar Amhara regional state presented to our referral hospital with a complaint of swelling over his left flank for the past 3 months. Maternal pregnancy course and medical history were noncontributory, and he had an attended birth at a health center. He has seven siblings, none of whom had similar symptoms. On examination he had a distended abdomen, asymmetric with bulging left flank, visible horizontal line, upward umbilical slit, and absent rectus abdominis muscles. His abdomen was soft with a tender cystic, bimanually palpable mass on the left flank measuring 13 × 11 cm. Both testes were undescended and he also has developmental dysplasia of the hips. An abdominal ultrasound revealed a large cystic mass in his left kidney area with echo debris and a hip X-ray showed bilateral developmental dysplasia of the hip.Intraoperative findings were cystic left kidney, both testes were intraperitoneal, tortuous left renal vein, enlarged bladder reaching above umbilicus, and left megaureter.Interventions: bilateral orchidectomy and left nephrectomy were done. He was given intravenously administered antibiotics for treatment of pyelonephritis and discharged home with an appointment for follow up and possible abdominoplasty.ConclusionsIn the current report delayed presentation contributed to testicular atrophy and decision for orchidectomy. Furthermore, he will be at potential risk for sex hormone abnormality. Therefore, diagnosis of prune belly syndrome in resource-limited settings requires a high index of suspicion. We recommend further research to determine the optimal management and early diagnosis of prune belly syndrome in resource-limited settings.

Prune belly syndrome – Case report and review of the literature

We describe a 2-year-old boy seen in Kenya who presented with fever, dysuria, foul smelling urine, anddiarrhea. His previous ultrasonography showed an overdistended bladder and hydronephrosis. Physicalexamination revealed a distended abdomen, loose abdominal wall muscles with thin, flabby, and wrinkledskin on the abdominal wall, hypoplastic scrotum, and bilateral cryptorchidism. A diagnosis of prune bellysyndrome was promptly made. The urinary tract infection was duly treated with intravenous ceftriaxoneand the child followed by pediatric urology.

The Erroneous Diagnosis of Prune Belly Syndrome in a Case of Posterior Urethral Valve

We report a diagnostically challenging case of a full term baby boy with a prenatal diagnosis of a posterior urethral valve. While postnatal imaging was felt to be more consistent with Prune Belly Syndrome, cystoscopy confirmed the diagnosis of the valve. A review of the literature has shown an interesting similarity in imaging and physical exam findings and perhaps an explanation for the misdiagnosis.

Prune belly syndrome

The majority of paediatric surgeons will encounter a patient with prune belly syndrome (PBS) only a few times in their clinical practice. There have been many opposing views in the literature regarding the pathogenesis and management of this complex condition. A detailed review was conducted using PubMed to identify key publications involving PBS. This article discusses the evolution of our understanding of the pathogenesis and diagnosis of PBS, including its typical characteristics. We describe the management options available for bilateral intra-abdominal testes, the deficient abdominal wall, the dilated urinary system and examine the evidence base used to support the current approaches employed.

Fetal Megacystis

The purpose of our retrospective observational series was to determine whether the sonographic characteristics of fetal megacystic bladders can be used to reliably establish the most likely diagnosis in fetuses with this condition. The sonographic records of pregnant patients referred to our institutions over a 10-year period who were found on initial 2-dimensional sonography to be carrying fetuses with megacystis were examined for evidence of a keyhole sign, bladder thickness, amniotic fluid index, and fetal sex. When available, 3-/4-dimensional sonography, Doppler angiography, tomographic ultrasound imaging, virtual organ computer-aided analysis, and automatic volume calculation were used as part of the detailed fetal anatomic survey. Twenty fetuses with megacystis were identified. Seventeen were male; 2 were female; and 1 had ambiguous genitalia. All male fetuses with megacystis originally had a diagnosis of prune belly syndrome. The diagnosis for 10 male fetuses with a keyhole sign was changed to megacystis secondary to posterior urethral valves. The fetus with ambiguous genitalia had prune belly syndrome. One of the female fetuses had a diagnosis of urethral atresia, and the diagnosis for the other female fetus was megacystis-microcolon-intestinal hypoperistalsis syndrome. In conclusion, in fetuses with megacystic bladders, it is possible to distinguish between cases with prune belly syndrome, posterior urethral valves, urethral atresia, and megacystis-microcolon-intestinal hypoperistalsis syndrome by a detailed anatomic survey using 2- and 3-/4-dimensioinal sonographic techniques.

Two‐ and three‐dimensional prenatal sonographic diagnosis of prune‐belly syndrome

We report the prenatal diagnosis of 6 cases of Prune-belly syndrome in the 2(nd) trimester. The sonographic diagnosis was based on the findings of oligohydramnios, renal anomalies, and a lower abdominal cystic mass representing the abnormal dilatation of the bladder on conventional 2-dimensional sonographic examination. We discuss the role of Doppler imaging and 3-dimensional sonography as complementary methods to conventional sonography. Four of our 6 cases were confirmed with associated defects.

Antenatal Diagnosis of Prune Belly Syndrome at 11 Weeks of Gestation

We present a case of prune belly syndrome diagnosed by ultrasonography at 11 weeks of gestation. We believe this case to be the earliest detection of this syndrome.