Hirschsprung disease

Hirschsprung disease is most commonly diagnosed in the first year of life.

Presents with vomiting, delayed passage of meconium, abdominal distension, and/or enterocolitis.

May be associated with other congenital anomalies (e.g., Down syndrome, multiple endocrine neoplasia type IIA).

Definitive diagnosis is with a rectal biopsy.

Initial treatment is bowel irrigation, followed by a definitive surgical treatment, either transanally alone or with laparoscopic assistance. Rarely, colostomy or ileostomy is required, with definitive pull-through delayed.

Irrigations often do not work for patients with total colonic Hirschsprung disease. Total colectomy with ileo-procto anastomosis and a protective ileostomy is recommended at the time of diagnosis, with definitive surgery when stoma output is of a thicker consistency (typically when the child is around one year old and has fully transitioned to solid foods).

A congenital condition characterized by partial or complete colonic functional obstruction associated with the absence of ganglion cells.[1]Montalva L, Cheng LS, Kapur R, et al. Hirschsprung disease. Nat Rev Dis Primers. 2023 Oct 12;9(1):54. http://www.ncbi.nlm.nih.gov/pubmed/37828049?tool=bestpractice.com ​​[2]Peña A, Bischoff A. Hirchsprung disease. In: Peña A, Bischoff A, eds. Surgical treatment of colorectal problems in children. Cham, Switzerland: Springer International Publishing; 2015:399-436. Because of the aganglionosis, the lumen is tonically contracted, causing a functional obstruction. The aganglionic portion of the colon is always located distally, but the length of the segment varies. This determines the varied manifestations of the disease. The vast majority of patients present in the newborn period up to 1 year of age. Diagnosis later in life occurs rarely.

Hirschsprung-associated enterocolitis (HAEC) may present with abdominal distention, tenderness, fever, lethargy, and diarrhea.[3]Pastor AC, Osman F, Teitelbaum DH, et al. Development of a standardized definition for Hirschsprung's-associated enterocolitis: a Delphi analysis. J Pediatr Surg. 2009 Jan;44(1):251-6. http://www.ncbi.nlm.nih.gov/pubmed/19159752?tool=bestpractice.com Severe HAEC can result in life-threatening sepsis and should be treated expeditiously as it is the leading cause of death in Hirschsprung disease.​