Una rara presentación de la enfermedad de hirschsprung en el adulto / A rare presentation of adult hirschsprung disease

Objetivo: Presentación de un caso clínico de una patología bastante infrecuente, como es el síndrome de Waardenburg tipo IV, en un paciente intervenido en el servicio de Cirugía 2 del Hospital Domingo Luciani. IVSS, Caracas. Métodos: Paciente masculino de 32 años, quien consultó por presentar dolor y distensión abdominal. Al examen físico se evidenció desnutrición, retardo en el crecimiento, hipoacusia y distopia cantorum. Diagnóstico clínico: síndrome de Waardenburg, tipo IV. Resultados: Se practicó una laparotomía exploradora, evidenciándose gran dilatación pancolónica. Biopsias rectales compatibles con enfermedad de Hirschsprung. Un procedimiento de Soave fue realizado, con una ileostomía en asa. Actualmente en espera del cierre de la ileostomía Conclusión: El síndrome de Waardenburg es una rara enfermedad autosómica dominante de presentación clínica y genética heterogénea, de penetración variable. El tipo IV está asociado a enfermedad de Hisrchsprung(AU)

Objective: Presentation of a clinical case of a quite uncommon pathology, the Waardenburg's syndrome type IV, in a patient treated at Surgery 2 service of the Hospital Domingo Luciani. IVSS, Caracas. Methods: A 32 year old male patient, consulted for presenting pain and abdominal distention. Physical examination showed malnutrition, failure to thrive, hearing loss and dystopia cantorum. Clinical diagnosis: Syndrome Waardenburg type IV. Results: It was performed a laparotomy, showing a great pancolonic dilatation. Rectal biopsies compatible with Hirschsprung disease. A Soave procedure was done with a loop ileostomy. Currently waiting for ileostomy closure. Conclusion: Waardenburg syndrome is a rare autosomal dominant disease with heterogeneous clinical and genetic presentation of variable penetration. Type IV is associated with Hisrchsprung disease(AU)

Primary laparoscopic pull-through procedure for Hirschprung disease at a low resource setting: Experience and early results.

Objective: To evaluate the feasibility of performing the single stage primary laparoscopic pullthrough (PLPP) surgery for Hirschprung disease (HD) to avoid the morbidity associated with traditional staged multiple surgery. Method: PLPP was performed on 12 patients with histologically diagnosed, uncomplicated HD below the age of 4 years since April 2010. Adequate bowel preparation was achieved prior to surgery. Four-port video laparoscopy was performed. The transition zone was identified with biopsies and confirmed with frozen section. Colon and rectum were mobilized close to its wall up to the pelvic floor. Rectal prolapse was induced intussuceptically and the rectum transected 2cm above the dentate line. Colon was pulled down through anus and divided at biopsy site level. Colo-anal anastomosis was performed over a rectal tube. Results: A noteworthy improvement of bowel habits and general well being was expressed by parents during follow-up assessment. Early results from our study, as well as the long-midterm results from elsewhere in the world, suggest that the PLPP is superior to the traditional staged procedure. Conclusion: PLPP is a better, safer and more effective approach of treating HD.

Papel de la colonoscopia virtual en la evaluación de la enfermedad no polipoidea en pediatría / Virtual colonoscopy in pediatrics. Its role in the evaluation of non-polypoid lesions

Virtual colonoscopy is a new non-invasive method useful in the evaluation of elevated lesions. Due to the fact that the method has only been used for that purpose in the adult and pediatric population, the aim of this paper is to determine its utility in pediatric pathologies other than elevated lesions. Twenty patients with abdominal pain, chronic constipation and defecation problems were evaluated. The studies were performed with a 4-row CT scanner, using 1 mm slice thickness collimation. The acquisition time was 7-12 seconds. Neither sedation nor anesthesia was necessary. CT colonography can generate images similar to those from barium enema studies, without the use of barium contrast, avoiding related complications. The CT exam also provides information about the rest of the abdominal organs. All studies were performed without complications. Patients with Hirschprung disease, colorectal malformations, post-surgical complications and psichogenic megacolon were detected.

La colonoscopia virtual es una modalidad diagnóstica no invasiva para la valoración de enfermedad colorrectal sobre elevada. Dada su escasa aplicación en la población pediátrica, el objetivo de este trabajo es determinar su utilidad en otras patologías pediátricas. Se evaluaron 20 pacientes con síntomas como dolor abdominal, constipación crónica y dificultad en la defecación. Los estudios se realizaron con un tomógrafo de 4 filas de detectores, con cortes de 1 mm de espesor. La adquisición de las imágenes se realizó en decúbito supino, sin necesidad de apnea ni de anestesia. El tiempo de adquisición fue de aproximadamente 7 a 12 segundos. La colonoscopia virtual permite obtener imágenes similares a las de un colon por enema sin utilizar ningún tipo de contraste, por lo que evita posibles complicaciones. A ello se agrega la extrema rapidez del estudio, sin necesidad de movilizar al paciente. Además, brinda información adicional sobre el resto de los órganos abdominales, lo que determina un estudio más completo del paciente. No se observaron complicaciones. Se detectaron diversas patologías pediátricas como enfermedad de Hirschprung, megacolon psicógeno, malformaciones anorrectales y complicaciones posquirúrgicas

Hirschprung’s Disease: A Rare Cause of Intestinal Obstruction in Adults

Hirschprung’s disease (aganglionosis) in the adult is a rare condition but needs to be considered as a diagnosis in any case of intractable constipation.We report a case of twenty-year-old woman with adult hirschprung’s disease, presenting as intestinal obstruction. Diagnosis is discussed and operative management evaluated.

Clinical Features and Diagnosis of Hirschsprung's Disease

Diagnosing Hirschprungs disease (HD) is a clinical challenge to pediatric surgeons. The cardinal symptoms are failure of passage of meconium within first 24 hours of life, abdominal distension, and vomiting. The severity of these symptoms and the degree of consitpation vary considerably between patients. HD is suspected on the basis of history and clinical findings and the diagnosis is established by radiological examination, anorectal manometry, and histochemical analysis of biopsy specimens. In this review, the advantages and pitfalls of each diagnostic modality are discussed. And a diagnostic approach utilizing these diagnostic modalities in children with suspicious HD is presented.

Hirschsprung disease or congenital nonglandular digestive abnormality

Hirschsprung disease or congenital nonglandular digestive abnormality

Preliminary results of the treatment of Hirschprung's disease by survey through posterior sagittal approach

The aim of the study is to describe the technique of operation for Hirschprung's disease by a Soave modified procedure through the posterior sagittal approach, to propose the indications and to evaluate the early result. From January 2000 to April 2000, 26 children suffering from Hirschprung's disease were operated by this technique. There was no mortality during and after operation. The anastomosis leakage occurred in one patient. The posterior sagittal approach is a convenient and safe one in survey for Hirschprung's disease with the ganglionic segment involves in the rectum and sigmoid.