RESUMEN
ABSTRACT: Currarino syndrome (CS) is a rare congenital syndrome characterized by a triad of anorectal malformation, sacral deformity, and presacral mass. In about 50% of cases, it is caused by HLXB9 gene mutation in chromosome 7q36. A 13-month-male child presented with presacral discharging sinus with a history of surgery for anorectal malformation and perineal fistula at the time of birth. On detailed investigation, the child revealed to have anal atresia, hemisacrum, and presacral mass. Histopathology of presacral mass showed features of immature teratoma. The presacral mass in CS is mostly an anterior myelomeningocele or presacral teratoma. The development of immature teratoma in presacral mass is very rare. The histopathological identification of immature component of teratoma in the presacral mass of CS is important for risk stratification and further management. Suspicion of CS should be raised in any child presenting with partial phenotype of the triad.
Asunto(s)
Canal Anal , Anomalías del Sistema Digestivo , Recto , Sacro , Siringomielia , Teratoma , Humanos , Teratoma/patología , Teratoma/cirugía , Teratoma/diagnóstico , Masculino , Canal Anal/anomalías , Canal Anal/cirugía , Canal Anal/patología , Sacro/anomalías , Sacro/cirugía , Sacro/patología , Anomalías del Sistema Digestivo/cirugía , Anomalías del Sistema Digestivo/diagnóstico , Anomalías del Sistema Digestivo/patología , Anomalías del Sistema Digestivo/genética , Siringomielia/cirugía , Siringomielia/genética , Siringomielia/patología , Siringomielia/diagnóstico , Siringomielia/diagnóstico por imagen , Lactante , Recto/anomalías , Recto/cirugía , Recto/patología , Ano Imperforado/cirugía , Ano Imperforado/diagnóstico , Ano Imperforado/genética , Ano Imperforado/patologíaRESUMEN
We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum.
Asunto(s)
Anomalías Múltiples , Ano Imperforado , Humanos , Ano Imperforado/genética , Ano Imperforado/patología , Ano Imperforado/diagnóstico , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Anomalías Múltiples/diagnóstico , Femenino , Masculino , Recién Nacido , Anomalías Urogenitales/genética , Anomalías Urogenitales/diagnóstico , Anomalías Urogenitales/patología , Hernia Umbilical/diagnóstico , Hernia Umbilical/patología , Lactante , Síndrome , Cloaca/anomalías , Cloaca/patología , Hemangioma/patología , Hemangioma/diagnóstico , Hemangioma/genética , Fenotipo , Columna Vertebral/anomalías , Columna Vertebral/patología , Columna Vertebral/diagnóstico por imagen , EscoliosisRESUMEN
PURPOSE: To determine the effect of a single dose of adriamycin (ADR) to induce anorectal malformations (ARMs) and determine the effect of folic acid (FA) in this model. METHODS: Ten female Wistar rats were divided randomly in two groups. Group A - ADR; Group B - FA+ADR. Dams from group B received daily, since two weeks before the pregnancy to the end of pregnancy, FA (50mg/kg) by gavage. Dams from both groups received ADR (6mk/kg) by intraperitoneal injection on gestational day (GD) 8. Their fetuses were harvested by cesarean section on GD21 and were examined looking for ARMs. The thickness of anal stratified squamous epithelium (ASSE) and intestinal epithelium (IE) were analyzed. p≤0.05*. RESULTS: 81 fetuses were harvested. The number of fetuses; number of ARMs; mean (∆%) (± SD) were determined to be, respectively: ADR - 41[29;65%(±37%)] versus FA+ADR - 40[04;16%(±36%)] (p=0.05). AMRs were significantly lower in FA+ADR group than in ADR group (p=0.05). The thickness (µm) of ASSE (± SD) and IE (± SD) were measured, respectively: ADR - [25.98(±0.74) and 19.48(±1.68)] versus FA+ADR - [24.74(±0.91) and 24.80(±0.81)] (p<0.005). The thickness of IE was significantly enlarged when FA was given (p<0.005). CONCLUSIONS: Single dose of adriamycin on D8 was able to induce anorectal malformations. Folic acid reduces the number and enlarged the IE of ARMs ADR-induced.
Asunto(s)
Animales , Femenino , Embarazo , Ano Imperforado/prevención & control , Ácido Fólico/administración & dosificación , Ano Imperforado/inducido químicamente , Ano Imperforado/patología , Modelos Animales de Enfermedad , Doxorrubicina , Epitelio/anomalías , Epitelio/patología , Feto/anomalías , Distribución Aleatoria , Ratas Wistar , Inhibidores de Topoisomerasa IIRESUMEN
Las malformaciones ano-rectales del tipo de fístulas recto-urogenitales congénitas con ano normal y atresia rectal son anomalías poco frecuentes. Se discute el caso de una niña con la asociación de estas dos entidades, acompañada además de una vagina doble, quien fue llevada a la consulta a los siete días de vida por la expulsión de heces a través de los genitales. Las malformaciones fueron corregidas a través de un abordaje sagital posterior, con descenso del recto hasta el ano sin disección perineal. El tabique vaginal fue resecado a través de la vulva. En la actualidad no hay evidencia de recurrencia de la fístula recto-vaginal.
Congenital recto-urogenital type fistulas with a normal anus and rectal atresia, represent both anorectal malformations that are infrequently seen in clinical practice. We describe the case of a girl with an association of these two anomalies, together with a double vagina who, on her seventh day of life, expelled feces through her genitals. The malformations were corrected by means of a posterior sagittal approach, descending from the rectum to the anus without perineal dissection. The vaginal septum was resected thru the vulva. There is no evidence of recurrence of the recto-vaginal fistula.
Asunto(s)
Femenino , Humanos , Recién Nacido , Canal Anal/anomalías , Ano Imperforado/patología , Recto/anomalías , Fístula Rectovaginal/congénito , Canal Anal/cirugía , Canal Anal/patología , Ano Imperforado/cirugía , Recto/cirugía , Recto/patología , Fístula Rectovaginal/cirugía , Resultado del Tratamiento , Malformaciones AnorrectalesRESUMEN
Introduction: the perineal groove is a very uncommon anorectal anomaly. It is the result of an unknown embryology anomaly. The perineal groove is a wet sulcus extending from de fourchette to the anus. It is a benign pathology and tends to resolve spontaneously. Objective: We report two cases of girls diagnosed with perineal groove and their follow up. Cases reports: The first case is an 18 days old baby girl, that during her first clinical examination there was found a painless lineal lesion in the perineum from the fourchette to the anus, which created a big anxiety in her family. She was cared at the Pediatric Gynecology Unit, with local lubrication, doing well with the epithelization of it. The second case is an 8 year-old girl who consulted because, when being a child, she was diagnosed with a perineal lesion, but she didn't receive any special treatment and now she feels some aches in the perineum. Conclusions: The perineal groove is a benign entity pretty unknown by general practitioners or pediatricians. It is important to be up to date with this condition to avoid alarming misinterpretations.
Introducción. El surco perineal es una malformación poco frecuente, de etiología desconocida, consiste en una ranura en la línea media del periné desde la horquilla vulvar al ano, es benigna y tiende a la resolución espontánea. Objetivos: Reportar el diagnóstico y evolución de dos pacientes con surco perineal. Casos clínicos: Caso 1. Recién nacida de 18 días que previo al alta de maternidad se pesquisó una lesión lineal no dolorosa desde la horquilla vulvar al ano, lo que generó gran inquietud en su familia. En Ginecología Infantil se confirmó el diagnóstico, se manejó con lubricación del área genital evolucionando a la epitelización del surco. Caso 2. Niña de 8 años consultó por que en controles de salud se diagnosticó una "fisura" entre la horquilla vulvar y el ano que no fue tratada y presentaba molestias inespecíficas en el periné. Se indicó resección quirúrgica, pero paciente evolucionó satisfactoriamente con lubricación de la zona. Conclusiones. El surco perineal es una entidad benigna que debe ser conocida por médicos de atención ambulatoria debido a la alarma que pueden generar sus diagnósticos diferenciales.