Clinicopathologic features of allied disorders of Hirschsprung disease and status update

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

HD: Hirschsprung’s disease; IND: Enteric neuron dysplasia; IG: Ganglion immaturity; GNM Ganglioneuromatosis; IASA: Internal anal sphincter achalasia; MEN2B: Multiple endocrine neoplasia 2B; ADHD: Allied disorders of Hirschsprung disease.