Hirschsprung Disease

In a neonate or young infant with delayed passage of meconium, progressive abdominal distension, vomiting, or feeding intolerance, treat the presentation as distal bowel obstruction while evaluating for Hirschsprung disease. Hirschsprung disease is most often diagnosed in the first year of life, and approximately 90% of affected infants are diagnosed during the neonatal period.BMJ+1BMJHirschsprung's disease - Symptoms, diagnosis and treatment | BMJ Best PracticeBMJHirschsprung's disease in the UK and Ireland: incidence ...

Escalate immediately for suspected Hirschsprung-associated enterocolitis (HAEC), particularly when abdominal distension is accompanied by fever, diarrhea, colicky pain, lethargy, or blood-stained stool. HAEC can be the presenting event or occur after corrective surgery and remains a major source of morbidity and mortality.ScienceDirect+1ScienceDirectCurrent understanding of Hirschsprung-associated enterocolitis: Pathogenesis, diagnosis and treatmentScienceDirectRectal irrigations for the prevention of postoperative enterocolitis in Hirschsprung's disease - ScienceDirect

Arrange urgent pediatric surgical involvement for obstruction or suspected HAEC. The immediate procedural objective is decompression of obstructed bowel; definitive pull-through planning follows stabilization and histologic confirmation of aganglionosis.BMJ+1BMJHirschsprung's disease - Symptoms, diagnosis and treatment | BMJ Best PracticeGastroenterologySingle-stage operations for Hirschsprung's disease

The diagnostic endpoint is rectal histology showing absence of ganglion cells in the distal rectum. Rectal suction biopsy is a standard diagnostic tool; full-thickness rectal biopsy is an alternative when suction sampling is nondiagnostic or clinical-pathologic discordance persists.Wolters Kluwer+1Wolters KluwerAtypical Hirschsprung's Disease: Single Zonal... : American Journal of GastroenterologyWolters KluwerA Rare Case Report of Hirschsprung's Disease-simulating...

Use contrast enema to support the diagnosis and assist operative planning. A transition zone between dilated proximal bowel and narrowed distal colon is characteristic, but it does not replace biopsy confirmation.Wolters KluwerWolters KluwerAtypical Hirschsprung's Disease: Single Zonal... : American Journal of Gastroenterology

Anorectal manometry can provide supportive physiologic information through assessment of the rectoanal inhibitory reflex (RAIR), but a present RAIR does not exclude rare atypical patterns. In reported single-zonal aganglionosis, RAIR and rectal biopsies showed ganglion cells despite persistent obstructive symptoms; resection pathology identified a segmental aganglionic zone.Wolters KluwerWolters KluwerAtypical Hirschsprung's Disease: Single Zonal... : American Journal of Gastroenterology

Definitive treatment removes or bypasses the aganglionic segment and brings normally ganglionated bowel to the anus through a pull-through procedure. Traditional staged management uses a proximal diverting ostomy followed by a later pull-through, whereas single-stage operations are also used; selection depends on disease extent, bowel condition, and clinical stability.BMJ+2BMJHirschsprung's disease - Symptoms, diagnosis and treatment | BMJ Best PracticeBMJSurgical management of short-segment Hirschsprung ...GastroenterologySingle-stage operations for Hirschsprung's disease

For short-segment disease, transanal pull-through techniques include Soave and Swenson approaches. The Soave approach retains a rectal muscular cuff to reduce risk of pelvic autonomic, urethral, prostatic, or vaginal injury; the Swenson approach more completely removes affected rectal wall and may reduce postoperative obstructive symptoms, with tradeoffs that require surgeon-specific selection.PubMedPubMedTransanal pullthrough Soave and Swenson techniques for pediatric patients with Hirschsprung disease - PMC

Long-segment disease requires planning beyond a standard rectosigmoid pull-through and should be managed in a pediatric colorectal program. A systematic review and specialty guidance address management and outcomes for long-segment Hirschsprung disease, reflecting the greater anatomic and functional complexity of this subgroup.BMJBMJHirschsprung's disease - Symptoms, diagnosis and treatment | BMJ Best Practice

HAEC remains possible after definitive surgery. Postoperative stenosis and younger age at diagnosis have been associated with greater risk of postoperative HAEC admission, so recurrent distension, diarrhea, fever, lethargy, or bloody stool should prompt urgent assessment for enterocolitis and mechanical obstruction rather than reassurance alone.ScienceDirect+1ScienceDirectCurrent understanding of Hirschsprung-associated enterocolitis: Pathogenesis, diagnosis and treatmentScienceDirectOlder age at diagnosis of Hirschsprung disease decreases risk of postoperative enterocolitis, but resection of additional ganglionated bowel does not - ScienceDirect

For postoperative obstruction or constipation, evaluate for anastomotic stricture, retained obstructing anatomy, residual aganglionosis, or functional constipation. Post-pull-through complications reported across surgical series include recurrent constipation, fecal soiling, enterocolitis, bowel prolapse, anastomotic fistula, obstruction, and stenosis.Wiley+2WileyEvaluation and Management of Postsurgical Patient With ...PubMedTransanal pullthrough Soave and Swenson techniques for pediatric patients with Hirschsprung disease - PMCPubMedEarly and long-term complications following transanal pull through Soave technique in infants with Hirschsprung’s disease - PMC

Do not equate recurrent constipation with failed pull-through without assessment. Functional constipation can occur after surgery, while persistent obstruction may reflect a correctable structural or histopathologic problem.PubMedPubMedTransanal pullthrough Soave and Swenson techniques for pediatric patients with Hirschsprung disease - PMC

Discuss family-directed monitoring at each follow-up visit: stooling pattern, need for enemas or irrigations, continence or soiling, distension, enterocolitis admissions, growth, and the effect of bowel symptoms on daily function. Long-term studies assess voluntary bowel movements without enemas or rectal/colonic irrigation and use standardized bowel-function measures, underscoring the need to measure function rather than only surgical survival.BMJBMJOutcomes at five to eight years of age for children with ...

Examine and review the history for associated congenital anomalies and syndromic disease. Hirschsprung disease may occur with Down syndrome and multiple endocrine neoplasia type IIA; trisomy 21 also increases HAEC risk and should lower the threshold for enterocolitis assessment.BMJ+1BMJHirschsprung's disease - Symptoms, diagnosis and treatment | BMJ Best PracticeScienceDirectCurrent understanding of Hirschsprung-associated enterocolitis: Pathogenesis, diagnosis and treatment

Refer early to a pediatric surgeon with Hirschsprung and colorectal expertise when there is long-segment disease, recurrent enterocolitis, discordant manometry and pathology, persistent postoperative obstruction, or need for stoma revision. These scenarios require coordinated interpretation of contrast imaging, operative anatomy, and rectal or bowel pathology.BMJ+2BMJHirschsprung's disease - Symptoms, diagnosis and treatment | BMJ Best PracticeWileyEvaluation and Management of Postsurgical Patient With ...Wolters KluwerAtypical Hirschsprung's Disease: Single Zonal... : American Journal of Gastroenterology