ABSTRACT
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.
Subject(s)
Prune Belly Syndrome/diagnosis , Prune Belly Syndrome/etiology , Prune Belly Syndrome/therapy , Prune Belly Syndrome , UltrasonographyABSTRACT
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
Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Adult , Prune Belly Syndrome/etiology , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/mortality , Maternal Welfare , Infant Welfare , Pregnancy Complications/diagnosis , Pregnancy Complications/mortality , Statistics , Retrospective Studies , Fetus/abnormalities , Gestational Age , Infant Mortality , Muscle, Skeletal/abnormalities , Developed Countries , Developing Countries , Pregnancy Outcome , Prune Belly Syndrome/diagnosis , Prune Belly Syndrome/mortalityABSTRACT
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.
Subject(s)
Humans , Male , Female , Infant, Newborn , Spine , Congenital Abnormalities , Heart , Fetal Heart/abnormalities , Kidney/abnormalities , Autopsy , Prune Belly Syndrome/etiologyABSTRACT
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.
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Fetus/abnormalities , Prenatal Diagnosis , Prune Belly Syndrome/complications , Prune Belly Syndrome/diagnosis , Prune Belly Syndrome/epidemiology , Prune Belly Syndrome/etiology , Prune Belly Syndrome/physiopathology , Prune Belly Syndrome/mortality , Prune Belly Syndrome/therapy , Prune Belly Syndrome , Ultrasonography, Prenatal , Abnormalities, Multiple , Diagnosis, Differential , Patient Care TeamABSTRACT
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