Síndrome de Prune Belly / Prune Belly Syndrome

Información sobre este síndrome congénito, en el que se presenta agenesia, atrofia o hipoplasia de los músculos de la pared abdominal, anomalías en el sistema urinario, criptorquidia bilateral, y otras malformaciones secundarias. Se considera a la ecografía el primer método de diagnóstico por imágenes que se debe efectuar inmediatamente al nacimiento, y a la vez se destaca la importancia del diagnóstico prenatal precoz.

Síndrome de Prune Belly / Prune Belly Syndrome

Información sobre este síndrome congénito, en el que se presenta agenesia, atrofia o hipoplasia de los músculos de la pared abdominal, anomalías en el sistema urinario, criptorquidia bilateral, y otras malformaciones secundarias. Se considera a la ecografía el primer método de diagnóstico por imágenes que se debe efectuar inmediatamente al nacimiento, y a la vez se destaca la importancia del diagnóstico prenatal precoz.

Prune belly syndrome and associated malformations. A 13-year experience from a developing country

A retrospective investigation was conducted to describe clinical features and birth outcomes among babies with prune belly syndrome detected ante-natally and at birth at the University Teaching Hospital in Cameroon. A total of 11 cases were identified over a period of 13 years, and the majority of affected fetuses were male (10 of 11). Most of the mothers were less than 30 years of age, had singleton pregnancies, and about two-thirds were complicated by placenta praevia, genital infections, preeclampsia, and anaemia associated with hookworm infestations. The most prominent findings related to prune belly syndrome among our patients were clubfoot (45), pulmonary hypoplasia (27), Potter facies (27), imperforate anus (27), and arthrogryposis (18). About two-thirds of the affected pregnancies did not reach the age of viability either due to voluntary termination (three of seven cases) or spontaneous abortion (four of seven cases). Of the remaining four viable pregnancies, two cases each of stillbirth and neonatal death were recorded. Among pregnancies that were not voluntarily terminated (n = 8), multiple concomitant anomalies and bilateral renal lesions were apparently the cause of fetal/infant death in the majority of cases (75). In conclusion, Cameroonian babies with prune belly syndrome presented with clinical features that were comparable to those observed in developed nations

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.

Prune belly syndrome and associated malformations. A 13-year experience from a developing country.

A retrospective investigation was conducted to describe clinical features and birth outcomes among babies with prune belly syndrome detected ante-natally and at birth at the University Teaching Hospital in Cameroon. A total of 11 cases were identified over a period of 13 years, and the majority of affected fetuses were male (10 of 11). Most of the mothers were less than 30 years of age, had singleton pregnancies, and about two-thirds were complicated by placenta praevia, genital infections, preeclampsia, and anaemia associated with hookworm infestations. The most prominent findings related to prune belly syndrome among our patients were clubfoot (45%), pulmonary hypoplasia (27%), Potter facies (27%), imperforate anus (27%), and arthrogryposis (18%). About two-thirds of the affected pregnancies did not reach the age of viability either due to voluntary termination (three of seven cases) or spontaneous abortion (four of seven cases). Of the remaining four viable pregnancies, two cases each of stillbirth and neonatal death were recorded. Among pregnancies that were not voluntarily terminated (n = 8), multiple concomitant anomalies and bilateral renal lesions were apparently the cause of fetal/infant death in the majority of cases (75%). In conclusion, Cameroonian babies with prune belly syndrome presented with clinical features that were comparable to those observed in developed nations.

A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome.

A new case of the association of the Beckwith-Wiedemann and prune belly syndrome is reported and the aetiology of the syndromes discussed.

Asociación VACTER. Informe de 15 casos post mortem / VACTER association. Report of 15 cases post mortem

Se informan 15 casos de asociación VACTER, en siete de ellos se presentaron anomalías poco comunes. Las alteraciones más frecuentes en este estudio fueron: renales y vertebrales (86.6 por ciento), alteraciones de las extremidades (80 por ciento) y anales (73.3 por ciento). Dentro de las poco frecuentes destacan tres casos de VACTER con hidrocefalia, un caso de VACTER asociado a síndrome de Prune Belly y un paciente con pseudohermafroditismo femenino. Otros dos casos mostraron la asociación con un teratoma y displasia teratoide renal. Estos hallazgos extienden el espectro de malformaciones de la asociación VACTER.

Patterns of congenital lower urinary tract obstructive uropathy: relation to abnormal prostate and bladder development and the prune belly syndrome.

The pathogenesis of lower urinary tract obstruction is disputed, particularly its relation to both abnormal prostatic development and the prune belly syndrome (PBS). In an attempt to clarify this issue we examined 11 males (17-38 weeks gestation) with PBS who were autopsied at our institution. The lower urinary tract was embedded intact and prepared as serial histologic sections. Of the 11 cases, 8 demonstrated mechanical obstruction of the lower urinary tract. In five of these eight cases, a "flap-valve" structure was formed by an abnormal angulation between the prostatic and penile portions of the urethra. These had dilated, thin-walled bladders and prostates and moderate to severe renal dysplasia. One of the eight cases had a valve-like obstruction at the level of the mid-prostatic urethra associated with a complex cloacal malformation and a thin-walled bladder, another case had an epithelial plug at the penile meatus, and the last of the eight cases had a posterior urethral valve. The three remaining cases showed no mechanical obstruction. However, each had megacystis with marked thickening, interstitial fibrosis, and disarray of smooth muscle bundles in the bladder wall. In 10 cases, the prostate had no or only sparse, flattened glands. These results suggest that the abnormal development of the prostate in PBS may be explained as a pressure-induced dysplasia rather than a primary maldevelopment. The findings further suggest that abnormal prostatic development and the prune belly syndrome may arise from either anatomic obstruction of various types or functional obstruction from megacystis.

Sindrome de Prune Belly: presentación de un caso. Consideraciones sobre diagnóstico ultrasónico y tratamiento / Prune-Belly Syndrome: a case report

Frecuencia: Uno en 50.000 nacimientos. Principales manifestaciones: Agenesia o Atresia de musculatura abdominal; Agenesia o Atresia de uretra; Megavejiga. Etiología: Algunos autores consideran una consecuencia de un defecto mesodérmico primario. Caso clínico: Controles obstétricos normales hasta la semana 16, con diagnóstico ecográfico de Megavejiga. Se realizan punciones con evacuación de orina fetal. Se realiza estudio cromosómico y bioquímico. Consideraciones terapéuticas: 1) Punciones con evacuación de orina para disminuir la presión retrógada del tracto urinario; 2) Derivación de vejiga a líquido amniótico, que trata además el oligoamnios y mejora el desarrollo pulmonar; 3) Corregir las alteraciones morfológicas. Conclusiones: Formar un equipo médico interdisciplinario. Informar a los padres y prevenir que a pesar del tratamiento puede ocurrir fallo renal o pulmonar irreversible. Importancia del diagnóstico ultrasónico precoz.

Sindrome de Prune Belly: presentación de un caso. Consideraciones sobre diagnóstico ultrasónico y tratamiento / Prune-Belly Syndrome: a case report

Frecuencia: Uno en 50.000 nacimientos. Principales manifestaciones: Agenesia o Atresia de musculatura abdominal; Agenesia o Atresia de uretra; Megavejiga. Etiología: Algunos autores consideran una consecuencia de un defecto mesodérmico primario. Caso clínico: Controles obstétricos normales hasta la semana 16, con diagnóstico ecográfico de Megavejiga. Se realizan punciones con evacuación de orina fetal. Se realiza estudio cromosómico y bioquímico. Consideraciones terapéuticas: 1) Punciones con evacuación de orina para disminuir la presión retrógada del tracto urinario; 2) Derivación de vejiga a líquido amniótico, que trata además el oligoamnios y mejora el desarrollo pulmonar; 3) Corregir las alteraciones morfológicas. Conclusiones: Formar un equipo médico interdisciplinario. Informar a los padres y prevenir que a pesar del tratamiento puede ocurrir fallo renal o pulmonar irreversible. Importancia del diagnóstico ultrasónico precoz. (AU)

Prune belly syndrome with penile and urethral agenesis: report of a case.

The authors report the case of an infant born with prune belly syndrome associated with penile and urethral agenesis. At 15 weeks' gestation, antenatal ultrasonography showed a fetal giant bladder, congenital hydronephrosis, and oligohydramnios, and at 17 weeks' gestation, a fetal vesicoamniotic shunt operation was performed. A boy was born at 33 weeks' gestation with prune belly syndrome, an anocutaneous fistula, and penile agenesis. A cystostomy and cut-back operation were performed immediately, showing urethral agenesis, no urethral opening, and left renal hypoplasia. Thereafter, his renal system began functioning normally, and a urinary tract infection resolved. The authors speculate that the prune belly syndrome in this patient was caused by penile and urethral agenesis.

First report of distal obstructive uropathy and prune-belly syndrome in an infant with amniotic band syndrome.

We describe the first report of distal obstructive uropathy and prune-belly syndrome in an infant with amniotic band syndrome. Prenatal ultrasonographic examination in the third trimester revealed intermittent oligohydramnios, bilateral hydronephrosis, and megacystis. Postnatally, the infant was found to have a scalp defect, a skin pedicle, pseudosyndactyly and constriction rings on the hands, marked distention of the abdomen, a fibrous band attached to the proximal urethra causing urethral stricture, a swollen penile shaft, bilateral talipes equinovarus, and syndactyly of the feet. Multiple fibrous amniotic bands could be identified in the placenta. Our case shows that fetal distal obstructive uropathy can be associated with the congenital constriction band syndrome.

The prune-belly syndrome: current insights.

The prune-belly syndrome comprises a constellation of well-established physical findings, yet the cause and management remain controversial. This review focuses on the current understanding of its pathogenesis and characterizes the fetal and neonatal diagnosis and management. Other associated anomalies are discussed to understand better the factors affecting treatment and prognosis as these patients grow into childhood and beyond.

Prune-belly syndrome in a female, complicated by intestinal malrotation after successful antenatal treatment of hydrops fetalis.

The authors report a female case of prune-belly syndrome having an antenatal sonographic diagnosis of hydrops fetalis and treated prenatally with transplacental digitalis administration. The findings of this case suggest that the clinical entity includes various phenotypes or aberrants having different origins.

Sequência da obstruçäo precoce da uretra: um caso de consanguinidade / Urethral premature obstruction sequence: a case of consanguinity

A sequencia de obstruçäo precoce da uretra ou Síndrome de Prune-belly é uma anomalia rara e complexa que afeta órgäos genito-urinários e a parede abdominal. A etiologia é controversa. Relata-se caso de uma recém-nascida em uma família consanguínea. O propósito faleceu pouco tempo após o nascimento

["Prune belly" syndrome. Etiopathogenesis and prenatal diagnosis. A case report]. / Syndrome du "prune belly". Etiopathogénie et diagnostic anténatal. A propos d'un cas.

Prune belly syndrome was diagnosed early in the antenatal period. Renal function was evaluated on the basis of bladder puncture results performed at 18 weeks gestation due to urethral atresia, suggesting a possible pathogenesis mechanism. Recent pathogenic data and the relationship with antenatal diagnosis are discussed.