Shock séptico: complicación atípica de duplicación del tracto alimentario / Septic shock: an atypical complication of alimentary tract duplication

Las duplicaciones del tracto alimentario son un conjunto heterogéneo de anomalías congénitas del tubo digestivo. Su forma de presentación es variada, y pueden desarrollar distintas complicaciones libradas a su evolución natural. La infección es una complicación poco frecuente, pero que no puede desconocerse por la gravedad que implica. Se presenta el caso de una paciente de 2 años de edad, previamente sana, con una complicación atípica de una duplicación del tracto alimentario: un shock séptico. Consultó inicialmente por distensión y dolor abdominal asociado a una masa abdominal palpable. Los estudios imagenológicos evidenciaron una formación líquida parcialmente tabicada en el hemiabdomen derecho. Durante la internación, se presentó una infección intratumoral, que evolucionó al shock séptico. Respondió favorablemente al tratamiento médico del shock, y se realizó la exéresis quirúrgica posteriormente. La anatomía patológica confirmó la duplicación del tracto alimentario.

Alimentary tract duplications are heterogenous congenital anomalies of the digestive tract. Their form of presentation is varied, and they may lead to different complications, depending on their natural course. Infection is a rare complication, but it cannot be ignored because of its severity. Here we describe the case of an otherwise healthy 2-year-old girl with an atypical complication of alimentary tract duplication: septic shock. She initially consulted due to abdominal distension and pain associated with a palpable abdominal mass. The imaging studies showed a partial fluid septation in the right side of the abdomen. During hospitalization, an intratumoral infection developed, which progressed to septic shock. The patient responded favorably to medical treatment for shock, and surgical resection was subsequently performed. The pathology report confirmed the presence of alimentary tract duplication.

Malrotación intestinal en el adulto diagnosticado posterior a presentación del síndrome pospolipectomía en ciego: reporte de un caso / Intestinal malrotation in adults diagnosed after presentation of post polypectomy syndrome in the cecum: report of a case

RESUMEN La malrotación intestinal es una anomalía congénita de la rotación y fijación intestinal, diagnosticada de forma infrecuente en la edad adulta. Se presenta un caso de malrotación intestinal en un paciente adulto previamente asintomático con cambios en el hábito intestinal en los últimos 6 meses al que se le realiza una colonoscopia ambulatoria con la evidencia de un pólipo en el ciego, posterior a su resección presenta dolor abdominal agudo en fosa ilíaca izquierda que permite la realización de estudios imagenológicos que confirman el diagnóstico.

ABSTRACT Intestinal malrotation is a congenital anomaly of intestinal rotation and fixation, diagnosed infrequently in adulthood. We report the presence of intestinal malrotation in a previously asymptomatic adult patient with changes in bowel habit in the last 6 months after a colonoscopy is performed with evidence of a polyp in the cecum, after resection presenting acute abdominal pain in the left iliac fossa that allows imaging to confirm the diagnostic.

Anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso en un neonato con el síndrome VACTERL-H / Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome

El síndrome VACTERL-H es un trastorno complejo de malformaciones congénitas que implica vértebras, ano, corazón, tráquea, esófago, riñones, extremidades (del inglés limbs) e hidrocefalia. Su etiología se ha identificado sólo en algunos pacientes debido, en gran medida, a su naturaleza esporádica, así como a su alto grado de heterogeneidad clínica. En este informe se presenta a un neonato con el síndrome VACTERL-H, al que se asocian anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso, que se comparan con las descritas en la bibliografía médica. Según nuestra experiencia, esta presentación no sólo amplía el conocimiento del espectro de anomalías que se puede presentar en el síndrome VACTERL-H, sino que también podría ser útil en la identificación de pacientes con este fenotipo heterogéneo.

VACTERL-H syndrome is a complex disorder of congenital malformations that implies vertebrae, anus, heart, trachea, esophagus, kidneys, limbs and hydrocephalus. Its etiology has been identified in a fraction of patients largely due to their sporadic nature and its high degree of clinical heterogeneity. This report presents a newborn with VACTERL-H syndrome, associated with unusual branchial arch, dermoepidermal and nervous system anomalies, which are compared with those described in the medical literature. Based on our experience, the presentation of this case not only expands the knowledge of the spectrum of anomalies that can occur in VACTERL-H syndrome, but also can be useful in identifying patients with this heterogeneous phenotype.

RM fetal: patología torácica y abdómino-pélvica / Fetal MRI: thoracic, abdominal and pelvic pathology

Aunque la ecografía (US) es el método de elección en la evaluación del feto, la resonancia magnética (RM) es una técnica complementaria a la US en el diagnóstico de las anomalías fetales. Entre las ventajas de la RM se destacan un excelente contraste tisular, un campo de visión grande y una relativa operador-independencia. La mayoría de los trabajos previos de RM fetal han estudiado el sistema nerviodo central (SNC). Sin embargo, la RM es útil en la evaluación de las anomalías torácicas y abdominales. En este artículo se muestran los diferentes aspectos por RM de las anomalías fetales torácicas y abdominales y se discuten las indicaciones y ventajas de la RM fetal...

Dupliaciones entéricas en pacientes pediátricos / Enteric duplications in pediatric patients

Determinar la incidencia de duplicaciones del Tubo Digestivo en niños, en un período de 10 años. Estudio descriptivo, transversal, retrospectivo. Revisión de historias clínicas y biopsias en el Hospital de Niños JM de Los Ríos, desde 1998 a 2008. Variables: edad, sexo, presentación clínica, órgano duplicado, estudio diagnóstico y tratamiento. Se reportarón 11 pacientes con quistes de duplicación, 28% eran recién nacidos, 73% del sexo femenino. Predominó el dolor abdominal como síntoma de presentación en 28%. Se realizó diagnóstico prenatal en 18%. El órgano duplicado predominante fue intestino delgado 55%. Se realizó ecografía abdominal a 7 pacientes y de éstos en un 71% se diagnosticó duplicación intestinal antes de la cirugía. Se realizó exploración a cielo abierto en todos los casos y en 82% se realizó resección total del quiste. Las duplicaciones del tubo digestivo son poco frecuentes. El diagnóstico prenatal permite corregir el defecto en edades tempranas y disminuir su morbilidad. La ecografía es un método útil para el diagnóstico. La resección total de la duplicación es el tratamiento ideal...

Determining the incidence of duplications of digestive tube in children, during a 10-year term. Retrospective cross-sectioned descriptive study. Review of clinical records and biopsies in Hospital de Niños JM de Los Ríos, between 1998 and 2008. Variables: age, sex, clinical presentation, duplicated organ, study, diagnosis, and treatment. 11 patients were reported with duplication cysts: 28% was just-born, 73% was female. Abdominal pain prevailed as the presentation symptom in 28% of cases. Prenatal diagnosis was performed in 18% of cases. Small intestine was the prevailing duplicated organ: 55% of cases. Abdominal echography was performed in 7 patients, and out of which 71% was diagnosed with intestine duplication before surgery. Open sky exploration was carried out in all cases and total resection of cyst was performed in 82% of all cases. Duplications of the digestive tube uncommon. Prenatal diagnosis allows for correcting such defect in early age, thus reducing morbidity. Echography is a diagnosis helpful method. The ideal treatment for duplication is total resection...

Bronchopulmonary foregut malformation mimicking pseudocyst of pancreas.

We report a four-yr-old girl who was successfully treated for a large gastro-duodenal duplication that communicated with extra-lobar pulmonary sequestration on one end and the main pancreatic duct on the other. Such an association has not been reported hitherto.

Prenatally Detected Congenital Perineal Mass Using 3D Ultrasound which was Diagnosed as Lipoblastoma Combined with Anorectal Malformation: Case Report

We report a case of prenatally diagnosed congenital perineal mass which was combined with anorectal malformation. The mass was successfully treated with posterior sagittal anorectoplasty postnatally. On ultrasound examination at a gestational age of 23 weeks the fetal perineal mass were found on the right side. Any other defects were not visible on ultrasonography during whole gestation. Amniocentesis was performed to evaluate the fetal karyotyping and acetylcholinesterase which were also normal. As the fetus grew up, the mass size was slowly increased more and more. At birth, a female neonate had a perineal mass on the right side as expected. During operation, the anal sphincteric displacement was found near the mass and reconstructed through posterior sagittal incision. This is the first reported case of prenatally diagnosed congenital perineal mass, after birth which was diagnosed as lipoblastoma and even combined with anorectal malformation. This case shows that it can be of clinical importance to be aware of this rare fetal perineal mass in prenatal diagnosis and counseling.

Constipação intestinal / Intestinal constipation

Os autores destacam a importância da constipação intestinal, por sua alta incidência e tendência à cronificação, apresentando inicialmente sua conceituação e, a seguir, a definição dos distúrbios funcionais da defecação, os fatores etiológicos, apresentação clínica, diagnóstico diferencial e tratamento.Citam, igualmente, o papel da manometria anorretal na investigação do doença de Hirschsprung e a relação entre constipação e alergia ao leite de vaca. Finalmente, analisam as inter-relações entre constipação, prebióticos e probióticos.

Permanent intestinal failure.

CONTEXT: Intestinal failure (IF) requires the use of parenteral nutrition as long as it persists and may be in case of persistence an indication for intestinal transplantation. EVIDENCE ACQUISITION: Literature search was performed both electronically and manually. RESULTS AND CONCLUSIONS: Biological evaluation of IF is becoming possible with the use of plasma citrulline as a marker of intestinal mass. Short bowel syndrome (SBS) is the leading cause of intestinal failure in infants while few epidemiological data are available to date. Data on morbidity and mortality in pediatric patients with SBS are very limited while long-term outcome seems to be improving. Other causes of intestinal failure include neuro muscular intestinal disease and congenital disease of enterocyte development. The management of IF should include therapies adapted to each type and stage of IF based on a multidisciplinary approach, in centers involving pediatric surgery, pediatric gastroenterology, parenteral nutrition expertise, home parenteral nutrition program, and liver-intestinal transplantation experience. Timing for referral of patients in specialized centers remains a crucial issue. The main causes of IF are briefly reviewed emphasizing the medico-surgical strategy for prevention and care-provision, adapted to each type and stage of IF.

Duplicación gástrica / Gastric duplication

Introducción: La duplicación gástrica es una malformación poco frecuente del tubo digestivo, que en algunos casos puede dar sintomatología secundaria a una complicación. Objetivo: Reportar dos pacientes portadores de una duplicación gástrica que fueron resueltos por vía laparoscópica. Se detallan los aspectos clínicos, radiológicos y los beneficios de la técnica utilizada. Casos: Un lactante de 9 meses portador de una neurofibromatosis que en su estudio abdominal aparece como hallazgo una malformación quística del estómago, y un recién nacido que presenta vómitos frecuentes, dolor abdominal y masa palpable. Ambos tratados con cirugía laparoscópica, con buena evolución. Conclusión: La duplicación gástrica es una entidad poco frecuente que requiere tratamiento quirúrgico, ya sea por vía abierta o laparoscópica, siendo esta última una técnica recomendable y segura en la actualidad.

Imaging of congenital anomalies of the gastrointestinal tract.

The radiological imaging plays a vital role in the evaluation of patients with congenital anomalies of the gastrointestinal tract. The evaluation of these patients, most of which present early after birth, frequently requires the use of various imaging modalities for making the correct diagnosis and planning surgical correction. This article reviews the common congenital anomalies of the gastrointestinal tract including obstructive lesions, anomalies of rotation and fixation, anorectal anomalies, and intestinal duplications. The plain radiograph is often diagnostic in neonates with complete gastric of upper intestinal obstruction and further radiologic evaluation may be unnecessary. An upper gastrointestinal series should be performed in all patients with incomplete intestinal obstruction. Sonography is useful in the evaluation of many congenital anomalies affecting pediatric gastrointestinal tract especially hypertrophic pyloric stenosis, enteric duplication cysts, midgut malrotation, meconium ileus and meconium peritonitis. Moreover, CT and MRI has assumed a greater importance as these provide excellent anatomic details which may be necessary for correct diagnosis as well as treatment planning. This is particularly true in evaluation of congenital anomalies such as esophageal/enteric duplications, vascular rings and anorectal anomalies. It is important to be familiar with the role nad usefulness of the various imaging modalities so that these can be used judiciously to avoid unnecessary radiation exposure while minimizing the patient discomfort.

Hirschsprung's disease complicating colonic atresia.

A case of colonic atresia associated with Hirschsprung's disease is described in a full term neonate presented with intestinal obstruction. Laparotomy revealed type III colonic atresia. Histopathological examination suggested total aganglionosis in the postatretic colonic segment. The child recovered satisfactorily following two stage Duhamel - Martin's pull through procedure. Authors present their experience with the present case and the pertinent literature.

Intestinal neuronal disorders--a study of seven cases.

Intestinal neuronal dysplasia (IND) has been reported as an innervation disorder that can present as isolated disease or may be associated with Hirschsprung's disease (HD). The interest in this disorder is growing as it mimics HD at clinical level but can be managed with a more conservative approach if an accurate diagnosis can be made. Many workers have tried to set up diagnostic criteria of this condition. But the importance of one criterion varied from one study to another. In our study we analysed seven cases of suspected innervation disorder that had undergone resection. A detailed histological study on these cases was performed and four of them were found to fulfill the diagnostic criteria of IND laid down by Kobayashi and his co-workers. These patients had hyperganglionosis, giant ganglia and ectopic ganglion cells in the lamina propria. In the other three cases some features were highly suggestive of the diagnosis of the IND and can be considered to be so if we follow other workers who have not given much importance to the simultaneous presence of all three criteria in a single case.

Mediastinal foregut duplication cysts.

Foregut duplication cysts are rare congenital anomalies of enteric origin. In majority of the patients, the diagnosis is made in infancy. The authors report 4 cases of mediastinal foregut duplication cyst in children diagnosed on CT/MRI and confirmed on histopathology. In none of the cases the cysts had intraspinal extension nor heterotopic gastric mucosa.

Duplicación gástrica / Gastric duplication

La duplicación gástrica es una malformación muy poco frecuente.Se describe el caso de una niña de 6 años de edad,en buen estado general,con dolor abdominal y naúseas de 7 días de evolución.El exámen físico no aportaba datos significativos,por lo que se solicitó una ecografía,que evidencio un quiste de paredes engrosadas y límites poco definidos,vecino al estómaga.Para precisar sus límites y relaciones se completo el estudio con una tomografía computada que mostró que la formación quística no se comunicaba con la luz gástrica,ni se originaba en órganos vecinos.El objetivo de este trabajo fue presentar una causa muy poco frecuente de dolor abdominal y masa palpable en pediatría que debería tenerse en cuenta en pacientes con esta sintomatología e imagen quística en la ecografía

Utilidad de la RM ultra-rápida en el diagnóstico de la patología fetal / Diagnostic value of ultrafast fetal MRI

Propósito: presentación de casos con patología fetal estudiados mediante secuencias ultrarrápidas de RM. Material y métodos: se estudiaron 12 pacientes (14 fetos) cursando el 2º y 3º trimestre de embarazo con US y RM obstétricas. Para la RM se implementaron secuencias ultrarrápidas (Half Fourier Single Shot Turbo SE, HASTE). No se implementó sedación materna ni fetal. Resultados: los hallazgos de los 12 casos con anomalías fetales fueron: quistes por duplicación intestinal (n=1), estenosis pieloureteral y displasia multiquística renal (n=1), atresia esofágica (n=1), síndrome acárdico-anencefálico (n=1), holoprosencefalia semilobar (n=1), hernia diafragmática congénita (n=1), malformación adenomatoidea quística (n=1), onfalocele asociado a escoliosis (n=1), gastrosquisis (n=1), estenosis duodenal (n=1), teratoma cervical (n=1) y atresia ureteral (n=1). Conclusión: las secuencias ultrarrápidas permiten es estudio por RM de pacientes cursando el 2º/3º trimestre del embarazo, sin requerimiento de sedación. Se utiliza como complemento de US para la confirmación de anomalías fetales. La información aportada permite la toma de decisiones terapéuticas adecuadas

Duplications of the alimentary tract in children.

This study was conducted to assess the clinical, diagnostic and therapeutic approach in patients with alimentary tract duplication and review the relevant literature. A retrospective analysis of 28 patients of alimentary tract duplications treated between January 1990-December 1999 was carried out. There was a male preponderance (25:3); 71% of the patients were under 2 years of age. The presenting features were related to the anatomic location. Three patients were diagnosed antenatally. Real time ultrasonography and CT scan was undertaken for preoperative evaluation in the majority of patients. In selected cases a 99m-Tc-pertechnetate scan and barium meal follow through examination were also performed. Majority of duplications were in the jejunum and ileum. Twenty percent of our patients had thoracoabdominal duplication as compared to 2% reported in literature. Four patients required to be operated upon in the emergency for related complications. In the remaining patients complete excision of the cyst was done in 21 and only mucosectomy in 3 patients. Because these lesions are rare and can present with a wide range of clinical manifestations or may even be encountered intraoperatively, the appropriate surgical management requires the surgeon to be familiar with the anatomy and clinical characteristics of these lesions.

Fetal gastrointestinal malformations.

In an audit to evaluate fetal gastrointestinal (GIT) malformations, case sheets of all mothers who gave birth to newborns with GIT malformations were analysed regarding the maternal history, prenatal ultrasound and the postnatal structural malformations and perinatal management. In 1999, eleven babies were born with gastrointestinal malformations, one was a still birth. Nine had associated malformations of other systems, two had trisomy 21. Eight babies were operated in the immediate newborn period, 5 survived. Ultrasound was not very accurate in the diagnosis of GIT anomaly in this series. In view of associated chromosomal and structural anomaly a fetal ECHO and genetic amniocentesis is warranted. Most of these babies require immediate surgery after birth, so they need to be delivered in a centre which is equipped with good neonatal and pediatric surgery care.