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World J Gastrointest Surg. Aug 27, 2025; 17(8): 104954
Published online Aug 27, 2025. doi: 10.4240/wjgs.v17.i8.104954
Table 1 Diagnostic techniques
Diagnostic method
Application purpose
Advantage
Limitation
Rectal mucosal biopsyDetect the deficiency of ganglion cellsGold standard, high accuracyIt is invasive and may require multiple samplings
Anorectal manometryEvaluate the rectoanal inhibitory reflexNon-invasive, functional assessmentInfants and toddlers have a poor cooperation for this method
Genetic test (for example: RET gene)Screen for genetic mutationsAssists in the diagnosis of familial casesHigh cost and limited positive rate
Table 2 Common classification and clinicopathological characteristics of allied disorders of Hirschsprung disease
Disease
Prevalence rate
Main symptoms
Pathological characteristics
HD1:5000 in newbornsDelayed meconium expulsion, abdominal distension, intestinal obstructionThe ganglion cells in the distal intestinal segment are absent
INDAccount for 15%-20% of HD casesStubborn constipation and abdominal painGanglion cells are underdeveloped and the activity of acetylcholinesterase is elevated
HypoganglionosisAccount for 5%-10% of HD casesChronic intestinal obstruction, malnutritionThe number of ganglion cells in the intermuscular plexus decreases
IGRare (mainly seen in premature infants or patients with ADHD)Neonatal intestinal obstruction, intractable constipation and feeding difficultiesGanglion cells are small in volume, have a high nuclear-cytoplasmic ratio, and are accompanied by glial cell proliferation
GNMExtremely rare (mostly related to MEN2B, with an incidence rate of MEN2B approximately 1:400000)Chronic abdominal pain, intestinal obstruction, diarrhea or constipation, intussusceptionThe ganglion cells and nerve fibers of the submucosal and intermuscular plexus proliferate diffusely, forming tumor-like structures
Deficiency of silver loving nerve plexus (K59.8)Extremely rare (with occasional case reports)Severe intestinal motility disorder, abdominal distension and vomitingSilver staining of the enteric intermuscular plexus (such as the Bielschowsky method) shows the loss of nerve fibers
IASA (K59.8)Rare (accounting for 3%-5% of ADHD)Difficulty in defecation, persistent constipation, and rectal dilationAbsence or dysfunction of the ganglion cells of the internal anal sphincter leads to the disappearance of the rectoanal inhibitory reflex
Table 3 Differential diagnosis with unique and overlapping features of allied disorders of Hirschsprung disease
Disease
Unique characteristics
Overlapping features with ADHD
Meconium intestinal obstructionThick meconium blocks the terminal ileumNeonatal intestinal obstruction and abdominal distension
Chronic idiopathic constipationThe ganglion cells are normalStubborn constipation and abdominal pain
Congenital intestinal malrotationMidintestinal torsion, compression by Ladd cordsSymptoms of vomiting and intestinal obstruction