Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2016 Sep;34(3):388-92.
doi: 10.1016/j.rpped.2015.12.008. Epub 2016 Feb 18.

Hirschsprung's disease - Postsurgical intestinal dysmotility

[Article in English, Portuguese]
Mariana Tresoldi das Neves Romaneli  1 , Antonio Fernando Ribeiro  2 , Joaquim Murray Bustorff-Silva  1 , Rita Barbosa de Carvalho  1 , Elizete Aparecida Lomazi  3
Affiliations
Case Reports

Hirschsprung's disease - Postsurgical intestinal dysmotility

[Article in English, Portuguese]
Mariana Tresoldi das Neves Romaneli et al. Rev Paul Pediatr. 2016 Sep.

Abstract
in English, Portuguese

Objective: To describe the case of an infant with Hirschsprung's disease presenting as total colonic aganglionosis, which, after surgical resection of the aganglionic segment persisted with irreversible functional intestinal obstruction; discuss the difficulties in managing this form of congenital aganglionosis and discuss a plausible pathogenetic mechanism for this case.

Case description: The diagnosis of Hirschsprung's disease presenting as total colonic aganglionosis was established in a two-month-old infant, after an episode of enterocolitis, hypovolemic shock and severe malnutrition. After colonic resection, the patient did not recover intestinal motor function that would allow enteral feeding. Postoperative examination of remnant ileum showed the presence of ganglionic plexus and a reduced number of interstitial cells of Cajal in the proximal bowel segments. At 12 months, the patient remains dependent on total parenteral nutrition.

Comments: Hirschsprung's disease presenting as total colonic aganglionosis has clinical and surgical characteristics that differentiate it from the classic forms, complicating the diagnosis and the clinical and surgical management. The postoperative course may be associated with permanent morbidity due to intestinal dysmotility. The numerical reduction or alteration of neural connections in the interstitial cells of Cajal may represent a possible physiopathological basis for the condition.

Objetivo:: Descrever o caso de um lactente portador de doença de Hirschsprung na forma aganglionose colônica total que, após a ressecção cirúrgica do segmento agangliônico, manteve quadro irreversível de obstrução intestinal funcional; discutir as dificuldades no manejo dessa forma da aganglionose congênita e apontar um mecanismo patogenético plausível para o caso.

Descrição do caso:: O diagnóstico de doença de Hirschsprung na forma aganglionose colônica total foi definido em lactente aos dois meses de vida, após episódio de enterocolite, choque hipovolêmico e desnutrição grave. Após ressecção colônica, o paciente não recuperou a função motora intestinal que possibilitasse a alimentação via enteral. O exame do íleo remanescente pós-operatório mostrou presença de plexos ganglionares e redução numérica das células intersticiais de Cajal em segmentos proximais do intestino. Aos 12 meses de vida, o paciente mantém-se dependente de nutrição parenteral total.

Comentários:: A doença de Hirschsprung na forma aganglionose colônica total tem particularidades clínico-cirúrgicas que a diferenciam das formas clássicas e dificultam o diagnóstico e o manejo clínico-cirúrgico. A evolução pós-operatória pode associar-se à morbidade permanente decorrente de dismotilidade intestinal. A redução numérica ou as alterações das conexões neurais das células intersticiais de Cajal podem representar uma possível base fisiopatológica para a condição.

Keywords: Doença de Hirschsprung; Gastrointestinal motility; Hirschsprung's disease; Infant; Lactente; Motilidade gastrointestinal.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1. Simple abdominal radiography of a 2-month-old patient with total colon aganglionosis. Preoperative image shows dilated loops of the small bowel and colon, and low volume of air in the colon region.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, et al. Hirschsprung's disease, associated syndromes and genetics: a review. J Med Genet. 2008;45:1–14. - PubMed
    1. Burkardt DD, Graham JM, Jr., Short SS, Frykman PK. Advances in Hirschsprung's disease genetics and treatment strategies: an update for the primary care pediatrician. Clin Pediatr (Phila) 2014;53:71–81. - PubMed
    1. Rabah R. Total colonic aganglionosis: case report, practical diagnostic approach and pitfalls. Arch Pathol Lab Med. 2010;134:1467–1473. - PubMed
    1. Moore SW. Total colonic aganglionosis and Hirschsprung's disease: a review. Pediatr Surg Int. 2015;31:1–9. - PubMed
    1. Laughlin DM, Friedmacher F, Puri P. Total colonic aganglionosis: a systematic review and meta-analysis of long-term clinical outcome. Pediatr Surg Int. 2012;28:773–779. - PubMed

Publication types