Bibliographic Details
| Title: |
Hirschsprungs disease and Mowat-Wilson syndrome: should a pull-through be performed? |
| Alternate Title: |
Enfermedad de Hirschsprung y síndrome de Mowat-Wilson: ¿debería realizarse un descenso transanal? |
| Authors: |
Martain-Pérez, Itzamara1 (AUTHOR), Dávila-Pérez, Roberto1 (AUTHOR), Fernández-Portilla, Emilio1 (AUTHOR), Lizárraga-Rodríguez, Itzel1 (AUTHOR), Moreno-Salgado, Rodrigo2 (AUTHOR), Nieto-Zermeño, Jaime1 (AUTHOR), Costa-Roig, Adria1 (AUTHOR), Domínguez-Muñoz, Alfredo1 (AUTHOR) dominguezaalfredo@gmail.com |
| Source: |
Boletín Médico del Hospital Infantil de México. mar/abr2026, Vol. 83 Issue 2, p87-93. 7p. |
| Subjects: |
HIRSCHSPRUNG'S disease, OPERATIVE surgery, ENTEROCOLITIS, COLOSTOMY, GENES, PATIENT care, GENETIC disorders |
| Abstract (English): |
The article focuses on the association between Mowat-Wilson syndrome (MWS), an autosomal dominant genetic disorder caused by variants in the ZEB2 gene (ZFHX1B, OMIM #235730), and Hirschsprung disease (HSCR), characterized by the congenital absence of ganglion cells in the colon. In a retrospective study of four patients with MWS, three presented with HSCR, and two of them required surgery through the transanal pull-through Swenson procedure (TPTS), experiencing severe postoperative complications and recurrent episodes of enterocolitis, including the need for a permanent colostomy in one case. The clinical course after surgery is unpredictable, and multidisciplinary management is recommended, reserving conservative treatment for patients without recurrent enterocolitis or chronic motility disorders. The need for further studies to optimize the surgical approach and long-term follow-up of this association is emphasized. [Extracted from the article] |
| Abstract (Spanish): |
Background: Hirschsprungs disease (HSCR) is characterized by the absence of ganglion cells. Five percent of cases are associated with syndromic conditions, one of which is Mowat-Wilson syndrome (MWS), with an incidence rate of 50%. HSCR may be the first feature of this syndrome to be diagnosed. MWS is an autosomal dominant genetic disorder caused by a variant in the ZEB2 gene (ZFHX1B). OMIM #235730. It involves severe clinical manifestations such as ocular hypertelorism, intellectual disability, congenital heart defects, epilepsy, and HSCR. The association between MWS and HSCR is regarded as a serious condition with unpredictable post-operative outcomes, and many reported complications related to motility disorders are noted. Methods: We conducted a retrospective study and reviewed the medical records of patients with MWS treated at our center. We examined the relationship among HSCR, clinical features, molecular characteristics, surgical complications, and pre-operative and post-operative enterocolitis events. Results: The study included four patients with MWS. Three (75%) were found to be associated with HSCR. Rectal biopsy confirmed HSCR in all patients. Two patients underwent a transanal pull-through Swenson procedure, and both experienced surgical complications. Both cases encountered multiple episodes of enterocolitis, and one of them required a permanent stoma. The third patient has not undergone surgical correction but has responded well to medical treatment (laxatives). Conclusions: The association between MWS and HSCR presents a severe condition with high morbidity. The outcome after the pull-through procedure is unpredictable. Further studies are necessary to gain a deeper understanding of this condition. We recommend evaluating these patients in a multidisciplinary consensus based on the existing literature and our findings. Those without recurrent enterocolitis or chronic motility disorders are suitable candidates for conservative management. Introducción: La enfermedad de Hirschsprung es una entidad caracterizada por ausencia de células ganglionares; en el 5% de los casos llega a ser sindrómica. Uno de los síndromes más asociados (hasta 50%) es el síndrome de Mowat-Wilson, que es una enfermedad genética con variante en el gen ZEB2 (ZFHX1B), OMIM #235730. Localizada en el cromosoma 2 (2:144,384,081), esta asociación sindrómica se considera una condición grave con resultados poco predecibles y complicaciones posquirúrgicas graves hasta en el 80% de los pacientes. Métodos: Se llevó a cabo una revisión retrospectiva de registros hospitalarios de pacientes con diagnóstico molecular de Mowat-Wilson tratados en nuestra institución. Se analizaron los siguientes datos: asociación con enfermedad de Hirschsprung, características clínicas, estudio molecular, complicaciones quirúrgicas y eventos de enterocolitis preoperatorios y postoperatorios. Resultados: Se incluyeron cuatro pacientes con variantes patogénicas en ZEB2 con diagnóstico de Mowat-Wilson (tres de ellos [75%] asociados a enfermedad de Hirschsprung). Dos de los tres pacientes se detectaron en la etapa neonatal, cursando con eventos de enterocolitis; ambos se sometieron a descenso transanal tipo Swenson y ambos requirieron un redescenso transanal secundario a enterocolitis de repetición. El 100% cursó con complicaciones postoperatorias. La cuarta paciente ha cursado asintomática, sin tratamiento quirúrgico. Conclusiones: La asociación de enfermedad de Hirschsprung con Mowat-Wilson es una condición grave con alta morbilidad, con evolución posterior al descenso transanal poco predecible. A pesar de que se necesitan más estudios en el futuro recomendamos que el abordaje de los pacientes con esta asociación sea de manera multidisciplinaria y aquellos sin episodios frecuentes de enterocolitis son buenos candidatos para tratamiento conservador. [ABSTRACT FROM AUTHOR] |
|
Copyright of Boletín Médico del Hospital Infantil de México is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| Database: |
MedicLatina |
