Do prune-belly syndrome and neural tube defects change testicular growth? A study on human fetuses.

BACKGROUND: There are no reports comparing testicular volume between normal fetuses, fetuses with prune-belly syndrome (PBS), and fetuses with anencephaly. The study hypothesis was that PBS and especially anencephaly alter the testicular volume during the human fetal period. AIM: The objective of the study was to compare the testicular growth in fetuses with anencephaly, with PBS, and without anomalies. STUDY DESIGN: This is a morphometric study of human fetuses. Seventy testes from fetuses without anomalies aged 11-22 weeks post-conception (WPC), 30 testes from fetuses with anencephaly aged 13-19 WPC, and eight testes from fetuses with PBS aged 13-16 WPC were studied. Testicular length, width, and thickness were evaluated with the aid of computer programs (Image Pro and ImageJ) (Figure). The fetal testicular volume was calculated using the ellipsoid formula: Testicular volume (TV) = [length × thickness × width] × 0.523. The Shapiro-Wilk test was used to ascertain the normality of the data and to compare quantitative data between normal fetuses vs. fetuses with anencephaly, while the Kruskal-Wallis test was used to assess gender and laterality differences. Simple linear correlations (LCs) were calculated for testicular volume according to fetal age, weight, and crown-rump length. RESULTS: All 108 testes studied were abdominal. The right (p = 0.0310) and left (0.0470) testicular volumes were significantly smaller in fetuses with anencephaly than those in the control group. The linear regression analysis indicated that the right and the left testis volume in the control group (right: r2 = 0.6665; left: r2 = 0.6707) and PBS group (right: r2 = 0.9937; left: r2 = 0.9757) increased with fetal age (p < 0.0001). This analysis also indicated that the testicular volume in fetuses with anencephaly did not increase with fetal age (right: r2 = 009816; left: r2 = 0.07643). DISCUSSION: This article is the first to report testicular volume correlations with fetal parameters in fetuses with anencephalic and fetuses with PBS. Significant alterations were observed in testicular growth in the anencephalic group compared with the control group, and it was also observed that the bilateral cryptorchidism in PBS does not alter the testicular development and growth during the fetal period. The unequal WPC distribution between fetuses with PBS, fetuses with anencephaly, and controls and the small sample size are limitations of this study. Further studies should be performed to confirm this study's findings. CONCLUSIONS: Testicular growth is slower and does not show significant correlations with fetal parameters in fetuses with anencephalic. Significant differences in testicular development in fetuses with PBS was not observed.

Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review.

Background: Pfeiffer syndrome (PS) is an autosomal dominant entity characterized by craniosynostosis, broad thumbs, and preaxially deviated great toes. It is classified in three types depending on the severity. Type 1: Mild to moderate severity, Type 2: Severe presentation with cloverleaf skull, and Type 3: Severe craniosynostosis with prominent ocular proptosis. Association of Pfeiffer syndrome (PS) types 2 and 3 with "prune belly" anomaly has been reported in two non-related patients, one PS type 2 and one PS type 3. Case Report: we report the second case of PS type 3 in a female neonate with "prune belly" anomaly and prenatal exposure to Parvovirus B19. Conclusions: We suggest that the "prune belly" anomaly and others abdominal wall defects as omphalocele and scar-type defects may be included as a feature in PS type 2 and 3.

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.

Síndrome de prune belly: presentación de caso / Prune belly syndrome: a case report

El síndrome de prune belly es una rara enfermedad congénita de causa desconocida. Se presenta el caso de un recién nacido a término, del sexo masculino y de un día de nacido, que fue remitido al servicio de urología pediátrica por presentar ausencia de los músculos de la pared anterior del abdomen (rectos anteriores), criptorquidia bilateral y gran globo vesical. A partir de los hallazgos del examen físico se planteó el diagnóstico de síndrome de prune belly. Se encontraron anomalías asociadas como escoliosis y agenesia del pie derecho. En el estudio radiológico del tracto urinario se confirmaron malformaciones congénitas como valva de uretra posterior y megavejiga con uretero-hidronefrosis bilateral. Los análisis de laboratorio confirmaron la afectación de la función renal y una infección urinaria asociada. Se practicó una cistostomía a cielo abierto. El paciente falleció a los 10 días a causa de las complicaciones de la insuficiencia renal(AU)

The prune belly syndrome is a congenital rare disease of unknown origin. The case of a one-day-old full- term male newborn infant that was referred to the pediatric urology service for presenting absence of the muscles of the anterior abdomen wall (anterior rectus muscle), bilateral cryptochordism and big vesical globe, was presented. Starting from the findings of the physical examination, the prune belly syndrome was diagnosed. Associated abnormalities such as scoliosis and agenesis of the right leg were found. In the radiological study of the urinary tract, congenital malformations as posterior urethra valve and megabladder with bilateral ureterohydronephrosis were confirmed. The lab tests corroborated the affectation of the renal function and an associated urinary infection. The patient died at 10 days as a result of the complications of renal failure(AU)

Síndrome de prune belly: presentación de caso / Prune belly syndrome: a case report

El síndrome de prune belly es una rara enfermedad congénita de causa desconocida. Se presenta el caso de un recién nacido a término, del sexo masculino y de un día de nacido, que fue remitido al servicio de urología pediátrica por presentar ausencia de los músculos de la pared anterior del abdomen (rectos anteriores), criptorquidia bilateral y gran globo vesical. A partir de los hallazgos del examen físico se planteó el diagnóstico de síndrome de prune belly. Se encontraron anomalías asociadas como escoliosis y agenesia del pie derecho. En el estudio radiológico del tracto urinario se confirmaron malformaciones congénitas como valva de uretra posterior y megavejiga con uretero-hidronefrosis bilateral. Los análisis de laboratorio confirmaron la afectación de la función renal y una infección urinaria asociada. Se practicó una cistostomía a cielo abierto. El paciente falleció a los 10 días a causa de las complicaciones de la insuficiencia renal(AU)

The prune belly syndrome is a congenital rare disease of unknown origin. The case of a one-day-old full- term male newborn infant that was referred to the pediatric urology service for presenting absence of the muscles of the anterior abdomen wall (anterior rectus muscle), bilateral cryptochordism and big vesical globe, was presented. Starting from the findings of the physical examination, the prune belly syndrome was diagnosed. Associated abnormalities such as scoliosis and agenesis of the right leg were found. In the radiological study of the urinary tract, congenital malformations as posterior urethra valve and megabladder with bilateral ureterohydronephrosis were confirmed. The lab tests corroborated the affectation of the renal function and an associated urinary infection. The patient died at 10 days as a result of the complications of renal failure(AU)

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

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.

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)

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.

Síndrome de Prune Belly: reporte de un caso / Prune Belly syndrome: report of a case

Revisando la literatura nacional encontramos escasa información al Síndrome de Prune Belly o Síndrome de Abdomen en Ciruela Pasa, lo que motivó nuestro interés en la revisión del tema a propósito de la presentación del primer caso hospitalizado en el Hospital "Dr. Plácido D. Rodríguez R.". Este síndrome se caracteriza por la ausencia o hipoplasia congénita de la pared abdominal, severa dilatación no obstructiva del tracto urinario y criptorquídia bilateral (1). Siendo una patología de etiología aún obscura y de díficil manejo, es importante su estudio dado la gravedad de los trastornos fisiopatológicos que ocasiona este complejo malformativo. Se presenta el caso de neonato masculino quien nació con dificultad respiratoria, hipoplasia de la pared abdominal, criptorquidia bilateral y la dilatación del tracto urinario. Se realizaron estudios ultrasonográficos y radiológicos que confirmaron el diagnóstico. La anomalía no urológica más importante fue dextrocardia.

La variante letal del síndrome Prune Belly: informe de dos casos / The lethal variant of the \"Prune Belly's\" syndrome: two cases report

En este informe se describen dos casos de la variante letal del síndrome de Prune Belly en que la obstrucción de la uretra produjo graves alteraciones del sistema urinario con distensión vesical y ureteral con repercusión secundaria en la pared abdominal y daño renal bilateral por displasia. Se comenta la etiopatogenia de este síndrome de acuerdo a la teoría embriológica del mesodermo, así como de la teoría de la secuencia de la obstrucción uretral en las etapas tempranas del desarrollo que repercuten en la pared abdominal. En estos casos descritos, el grado de obstrucción del tracto urinario repercutió en el desarrollo de malformaciones letales

Síndrome abdómen en ciruela pasa Prune-Belly

Consideramos importantes presentar el síndrome de abdomen en ciruelas pasa (Prune-Belly), porque a pesar de ser fácil de diagnosticar, puede pasar desapersibido al clínico debido su baja incidencia, conociéndose solamente 300 casos en la Literatura Mundial

Diagnóstico ecográfico prenatal de síndrome de Prune-Belly / Echographic prenatal diagnosis of Prune Belly syndrome

Se presenta un caso de Síndrome de Prune-Belly cuyo examen ecográfico pre-natal muestra hidrops, ascitis fetal transitoria y anomalías del sistema urinario. El diagnóstico del Síndrome fue hecho al nacer y confirmado por los exámenes de laboratorio. Se revisa la literatura y se enfatiza la posibilidad de sospechar este diagnóstico, cuando ciertos signos ecográficos aparecen