Riñón pélvico fusionado con uréter único, hidrometrocolpos y ano imperforado: conjunción de malformaciones infrecuentes en una adolescente / Pancake kidney with a single ureter, hydrometrocolpos, and imperforate anus: a set of uncommon malformations in a female adolescent

Una niña de 11 años de edad con antecedentes de ano imperforado, infección urinaria y episodios de constipación intermitentes se presentó a la consulta con cólicos abdominales y náuseas de una semana de evolución. Estudios radiológicos revelaron hidrometrocolpos y fusión renal pélvica con uréter único hidronefrótico. El examen vaginal evidenció un tabique transverso no permeable. Se evacuó temporalmente la colección con resolución de los síntomas. La paciente fue programada para cirugía vaginal reconstructiva definitiva. Se destaca en este caso no solo la asociación de malformaciones infrecuentes, sino una sintomatología muy común en la práctica pediátrica a causa de una patología rara vez considerada en el diagnóstico diferencial, y la importancia de una evaluación precoz y completa de este tipo de malformaciones para un tratamiento oportuno.

An 11-year-old girl with a history of imperforate anus, urinary tract infection, and intermittent episodes of constipation presented with abdominal pain and nausea for 1 week. The x-rays revealed hydrometrocolpos and fused pelvic kidney with a single hydronephrotic ureter. The vaginal examination revealed a non-permeable transverse vaginal septum. The collection was temporarily drained and symptoms resolved. The patient was scheduled for definitive vaginal reconstructive surgery. In this case, it is worth noting the association of infrequent malformations and also the signs and symptoms very common in pediatric practice due to a pathology rarely considered in the differential diagnosis, and the importance of an early and complete assessment of this type of malformations for a timely treatment.

Pancake kidney with a single ureter, hydrometrocolpos, and imperforate anus: a set of uncommon malformations in a female adolescent. / Riñón pélvico fusionado con uréter único, hidrometrocolpos y ano imperforado: conjunción de malformaciones infrecuentes en una adolescente.

An 11-year-old girl with a history of imperforate anus, urinary tract infection, and intermittent episodes of constipation presented with abdominal pain and nausea for 1 week. The x-rays revealed hydrometrocolpos and fused pelvic kidney with a single hydronephrotic ureter. The vaginal examination revealed a nonpermeable transverse vaginal septum. The collection was temporarily drained and symptoms resolved. The patient was scheduled for definitive vaginal reconstructive surgery. In this case, it is worth noting the association of infrequent malformations and also the signs and symptoms very common in pediatric practice due to a pathology rarely considered in the differential diagnosis, and the importance of an early and complete assessment of this type of malformations for a timely treatment.

Una niña de 11 años de edad con antecedentes de ano imperforado, infección urinaria y episodios de constipación intermitentes se presentó a la consulta con cólicos abdominales y náuseas de una semana de evolución. Estudios radiológicos revelaron hidrometrocolpos y fusión renal pélvica con uréter único hidronefrótico. El examen vaginal evidenció un tabique transverso no permeable. Se evacuó temporalmente la colección con resolución de los síntomas. La paciente fue programada para cirugía vaginal reconstructiva definitiva. Se destaca en este caso no solo la asociación de malformaciones infrecuentes, sino una sintomatología muy común en la práctica pediátrica a causa de una patología rara vez considerada en el diagnóstico diferencial, y la importancia de una evaluación precoz y completa de este tipo de malformaciones para un tratamiento oportuno.

Gastrointestinal disorders in Down syndrome.

Down syndrome is the most common human chromosomal disorder. Among clinical findings, one constant concern is the high prevalence of gastrointestinal system alterations. The aim of this study was to determine the prevalence of gastrointestinal disorders at a Down syndrome outpatient clinic during a 10-year follow-up period. Data from medical files were retrospectively reviewed from 1,207 patients. Gastrointestinal changes occurred in 612 (50.7%). The most prevalent disorder was chronic intestinal constipation. Intestinal parasite occurred in 22% (mainly giardiasis), gastroesophageal reflux disease in 14%, digestive tract malformations occurred in 5%: 13 cases of duodenal atresia, 8 of imperforate anus, 4 annular pancreases, 2 congenital megacolon, 2 esophageal atresias, 2 esophageal compression by anomalous subclavian and 1 case of duodenal membrane. We had 38/1,207 (3.1%) patients with difficulty in sucking and only three with dysphagia that resolved before the second year of life. Peptic ulcer disease, celiac disease, and biliary lithiasis were less prevalent with 3% each. Awareness of the high prevalence of gastrointestinal disorders promotes outstanding clinical follow-up as well as adequate development and greater quality of life for patients with Down syndrome and their families.

Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.

BACKGROUND: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes. CASE PRESENTATION: Here, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality, limb and external ears malformations, genitourinary anomalies, and a congenital heart defect. Genetic analysis revealed a SALL1 nonsense mutation. The case is discussed in the context of the current literature. CONCLUSIONS: Because of the variability in TBS clinical presentation, genetic analysis is key to the differential diagnosis of TBS relative to phenotypically similar syndromes.

Surco perineal en ginecología infantil: reporte de 2 casos clínicos / Perineal groove in pediatric gynecology: a report of 2 cases

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.

[Perineal groove in pediatric gynecology: a report of 2 cases]. / Surco perineal en ginecología infantil: reporte de 2 casos clínicos.

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.

Update on the management of anorectal malformations.

Thirty-three years ago, on 10 August 1980, in Mexico City, the first patient with an anorectal malformation was operated on using the posterior sagittal approach. At that time it was not obvious that we were actually opening a "Pandora's box" that continues to give many positive surprises, a few disappointments, and the constant hope that each day we can learn more about how to improve the quality of life of children born with all different types of anorectal malformations. In November 2012, patient number 3000 in our database was operated in the city of Cochabamba, Bolivia; during one of our International Courses of Anorectal Malformations and Colorectal Problems in Children. The goal of this article is to give a brief update on the current management of patients with anorectal malformation, based on the multiple lessons learned during this period.

[A rare variant of neuroenteric cyst: split notochord syndrome]. / Síndrome do notocórdio fendido, variante rara do cisto neuroentérico.

OBJECTIVE: We present a case of split notochord syndrome, an extremely rare form of spinal dysraphism. DESCRIPTION: We treated a 2 month-old boy presenting with an extensive lumbosacral deformity, hydrocephalus and apparent enteric segments in the dorsal midline, accompanied by an enteric fistula and imperforated anus. The malformation was diagnosed as split notochord syndrome. The baby died as a result of sepsis before surgical treatment could be attempted. COMMENTS: Split notochord syndrome is the rarest form of neuroenteric cyst described until this moment (< 25 cases in the literature). It is frequently associated with anorectal malformation, intestinal fistulae and hydrocephalus. Prognosis is not necessarily poor and survival is possible if digestive malformations, hydrocephalus and the dysraphism itself are treated simultaneously.

Tríade de Currarino-relato de um caos e revisäo da literatura / Currarino's triad-a case report and review of the literature

Resumo: Os autores relatam um caso de uma criança com malformaçäo congênita do sistema nervoso central-tríade de Currarino-, constituída por anormalidade óssea do sacro, malformaçäo ano-retal e massa pré-sacral. Säo ressaltados, no trabalho, os achados radiológicos, tomográficos e de ressonância magnética do caso e é feita uma revisäo bibliográfica sobre o assunto.

[Anorectal malformations: their diagnosis and the initial decisions]. / Malformaciones anorrectales: diagnóstico y decisiones iniciales.

The author presents the salient aspects of anorectal malformation which allow us to simplify their anatomical diagnosis. In many cases only clinical means are used while in others adequate use of technical studies are necessary. This enables us to reach therapeutic decisions in the simplest and most orderly fashion so that patients with these anomalies may be given the opportunity of attaining normal or near normal function.

Malformaciones anorrectales: diagnóstico y decisiones iniciales / Anorectal malformations: their diagnosis and the initial decisions

The author presents the salient aspects of anorectal malformation which allow us to simplify their anatomical diagnosis. In many cases only clinical means are used while in others adequate use of technical studies are necessary. This enables us to reach therapeutic decisions in the simplest and most orderly fashion so that patients with these anomalies may be given the opportunity of attaining normal or near normal function