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©The Author(s) 2025.
World J Gastrointest Surg. Aug 27, 2025; 17(8): 104954
Published online Aug 27, 2025. doi: 10.4240/wjgs.v17.i8.104954
Published online Aug 27, 2025. doi: 10.4240/wjgs.v17.i8.104954
Table 1 Diagnostic techniques
Diagnostic method | Application purpose | Advantage | Limitation |
Rectal mucosal biopsy | Detect the deficiency of ganglion cells | Gold standard, high accuracy | It is invasive and may require multiple samplings |
Anorectal manometry | Evaluate the rectoanal inhibitory reflex | Non-invasive, functional assessment | Infants and toddlers have a poor cooperation for this method |
Genetic test (for example: RET gene) | Screen for genetic mutations | Assists in the diagnosis of familial cases | High 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 |
HD | 1:5000 in newborns | Delayed meconium expulsion, abdominal distension, intestinal obstruction | The ganglion cells in the distal intestinal segment are absent |
IND | Account for 15%-20% of HD cases | Stubborn constipation and abdominal pain | Ganglion cells are underdeveloped and the activity of acetylcholinesterase is elevated |
Hypoganglionosis | Account for 5%-10% of HD cases | Chronic intestinal obstruction, malnutrition | The number of ganglion cells in the intermuscular plexus decreases |
IG | Rare (mainly seen in premature infants or patients with ADHD) | Neonatal intestinal obstruction, intractable constipation and feeding difficulties | Ganglion cells are small in volume, have a high nuclear-cytoplasmic ratio, and are accompanied by glial cell proliferation |
GNM | Extremely rare (mostly related to MEN2B, with an incidence rate of MEN2B approximately 1:400000) | Chronic abdominal pain, intestinal obstruction, diarrhea or constipation, intussusception | The 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 vomiting | Silver 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 dilation | Absence 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 obstruction | Thick meconium blocks the terminal ileum | Neonatal intestinal obstruction and abdominal distension |
Chronic idiopathic constipation | The ganglion cells are normal | Stubborn constipation and abdominal pain |
Congenital intestinal malrotation | Midintestinal torsion, compression by Ladd cords | Symptoms of vomiting and intestinal obstruction |
- Citation: Lu M. Clinicopathologic features of allied disorders of Hirschsprung disease and status update. World J Gastrointest Surg 2025; 17(8): 104954
- URL: https://www.wjgnet.com/1948-9366/full/v17/i8/104954.htm
- DOI: https://dx.doi.org/10.4240/wjgs.v17.i8.104954