Hypoganglionosis

doi:10.1016/S1055-8586(98)70016-2

Seminars in Pediatric Surgery

Volume 7, Issue 3, August 1998, Pages 187-191

https://doi.org/10.1016/S1055-8586(98)70016-2 Get rights and content

Only a few reports of intestinal hypoganglionosis (H) have been reported, mainly because of diagnostic difficulties. Persistent stool retention since birth and increasing distension of the colon are common to Hirschsprung's disease. It is extremely difficult to establish the diagnosis histochemically unless full-thickness biopsies are performed. Morphometric examination is essential for objective confirmation of the diagnosis. In H, the number of ganglion cells per longitudinal centimeter is decreased by a factor of 2, and the development of nerve fibers is scarce. Manometric findings are inconsistent, and barium studies of the colon and rectum may not provide answers regarding the underlying condition. Treatment of localized disease consists of resection followed by a Soave-type pull-through procedure. The etiology of H is still unknown, but an inborn hypoplasia of the parasympathetic myenteric plexus may be responsible. Among 353 rectal biopsies, 15 cases of H were detected. In seven children, it occurred as an isolated form, in four it was combined with distal aganglionosis, and in four it involved proximal intestinal neuronal dysplasia as well. After proper bowel preparation and resection of the hypoganglionic segment, the outcome was good for all patients. Secondary operations consisted of temporary colostomy in one patient due to anastomotic complications. One patient had an adhesive small bowel obstruction. In two patients with disseminated H of the small bowel and colon, resection was not indicated. Both are dependent on partial parenteral feeding since ages 9 and 3 years. It is expected that more cases of H will be diagnosed in the future, especially if diagnostic measures are improved. The diagnosis is likely in cases of persistent stool retention despite resection of an aganglionic segment.

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Cited by (37)

Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease
2019, Radiology Case Reports
Citation Excerpt :
Absence of acetylcholinesterase in the mucosa, reduction of nerve cells in the myenteric and submucosal plexus and reduction in the number of ganglion cells are characteristic findings on histology [4]. Hypoganglionosis has been described throughout the small intestine, colon, or isolated to the left colon or rectosigmoid [4]. Treatment involves resection of the most affected segments of bowel with colostomy or ileostomy formation.
Intestinal hypoganglionosis or isolated hypoganglionosis is a rare entity with a clinical and radiologic presentation that can mimic Hirschsprung's disease in the neonatal period. The diagnosis of this entity can be challenging with suction rectal biopsies that are standard for diagnosing Hirschsprung's disease. We present this case of congenital intestinal hypoganglionosis detailing the neonatal course, due to its rarity and the conundrums faced before an eventual diagnosis could be rendered. This case also illustrates the role of full thickness rectal biopsy in selected cases such as ours where the radiologic features are typical of Hirschsprung's, despite negative suction biopsies.
Pathology of intestinal motor disorders in children
2010, Surgical Pathology Clinics
Citation Excerpt :
Instead, a generous sample of myenteric plexus is required.32 Most quantitative studies of patients with symptomatic CH report reductions in the density of myenteric ganglion cells to at least 50% of normal.41–44 Severe cases are easy to recognize in H&E-stained sections from adequate samples of myenteric plexus.
Varied intestinal neuromuscular pathologies are responsible for Hirschsprung disease and other forms of chronic pseudo-obstruction that are encountered in pediatrics. Pathologically distinct subtypes discussed in this review include aganglionosis, hypoganglionosis, neuronal intranuclear inclusion disease, ganglionitis, degenerative neuropathy, diffuse ganglioneuromatosis, neuronal dysplasia, malformations of the muscularis propria, degenerative leiomyopathy, leiomyositis, and mitochondriopathies. Emphasis is given to the histopathologic features that distinguish these conditions and their differential diagnoses.
Counting myenteric ganglion cells in histologic sections: An empirical approach
2010, Human Pathology
Citation Excerpt :
Some studies suggest that failure to resect the TZ along with the aganglionic segment may account for the postoperative obstructive symptoms observed in many HD patients [10,12,13], but conflicting data exist [14]. Isolated hypoganglionosis (independent from HD) is also a putative cause of pseudo-obstruction [15-20]. Several investigators have counted myenteric neurons and established norms for human intestinal samples.
An abnormal density of myenteric neurons is a putative cause of intestinal pseudo-obstruction. Quantification of myenteric ganglion cells may be necessary to establish hyper- or hypoganglionosis, but published norms are very discordant. We investigated how observer bias and tissue sampling affect the accuracy and reproducibility of myenteric neuron counts obtained from histologic sections immunostained for HuC/D, a neuronal cell body-specific antigen. Despite a collective effort to standardize neuronal identification criteria, significant discrepancies were found between the counts obtained by different observers. In contrast, counts by a single observer, over a period of several months, revealed excellent reproducibility. To investigate effects of tissue sampling on the accuracy of ganglion cell density estimates, one observer counted immunoreactive neurons in 22 full-circumference rectal sections from the same paraffin block. The mean number of neurons per circumference from all 22 sections was considered a target, against which estimates from smaller samples were compared. To ensure an accurate estimate of the circumferential density (within 10% of the target value), counts had to be averaged from at least 5 sections of nearly the full circumference. Examinations of fewer sections or less than two thirds of the circumference were prone to errors. Application of these principles to sections from the transitional zone in Hirschsprung disease validated the approach and discriminated relatively subtle changes in neuronal density. We conclude that neuronal counts are best performed by individuals using their own normative data for reference and that biopsies of small portions of the circumference may not resolve potentially significant hypo- or hyperganglionosis.
Molecular Basis of Hirschsprung's Disease and Other Congenital Enteric Neuropathies
2006, Seminars in Colon and Rectal Surgery
The enteric nervous system (ENS) is a complex neural network that controls many essential functions in the gastrointestinal tract, including the regulation of intestinal peristalsis. Neural crest cells migrate, proliferate, and differentiate within the intestinal wall to give rise to the neurons and glial cells of the ENS. Failure of this process to occur normally during embryogenesis can lead to severe disorders of intestinal motility, the most common of which is Hirschsprung’s disease. Several proteins have been identified as being essential for normal ENS development, including members of the Ret and endothelin-3 signaling pathways. The analysis of transgenic mice harboring mutations in these critical genes has greatly enhanced our understanding of the molecular regulation of ENS development and of the etiology of intestinal aganglionosis. Building on this fundamental research, much has been learned recently about the genetics underlying the complex inheritance pattern of Hirschsprung’s disease. Continued progress in elucidating the molecular basis of normal and abnormal ENS development will greatly enhance our understanding of congenital enteric neuropathies and improve our ability to diagnose and treat children affected by these disabling conditions.
BMPRIA is a promising marker for evaluating ganglion cells in the enteric nervous system - A pilot study
2005, Human Pathology
Congenital disorders of the enteric nervous system (ENS) comprise a large group of conditions characterized by abnormalities in the number, size, or location of enteric ganglia. Their diagnosis requires careful histological evaluation of intestinal biopsies to determine the presence and morphology of these cells. Based on the recently discovered role of bone morphogenetic proteins (BMPs) in ENS development, we examined the expression of the ligands, BMP2 and BMP4, and their receptors, BMPRIA, BMPRIB, and BMPRII, during formation of the human ENS. The spatiotemporal expression pattern of these proteins suggests a role for BMP signaling in human ENS formation. We find BMPRIA, in particular, strongly and specifically expressed in all ganglion cells of the ENS at every age examined, from fetus to adult. Moreover, BMPRIA immunohistochemistry consistently allowed the identification of ganglion cells in rectal biopsies from patients with Hirschsprung disease, intestinal neuronal dysplasia, and immature ganglion cells. We propose that BMPRIA immunohistochemistry may be a promising new tool for the identification of enteric ganglion cells in the evaluation of patients with neurointestinal disorders.
Diagnostic dilemma and challenges in management: Hirschsprung's disease, anal stenosis and reduced interstitial cells of Cajal enteric mesenchymopathy
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Hypoganglionosis

J Pediatr Surg

J Pediatr Surg

Standardization of terminology of dysganglionoses

Pediatr Surg Int

Beitrag zur Pathooge des hypoganglionaren Megacolon

Verh dtsch Ges. Pathol

Das hypoganglionare Megacolon als Begleiterkrankung bei Morbus Hirschsprung

Z Kinderchir

Intestinal aganglionosis and intestinal segmental oligoganglionosis

Nippon-Riniho

Intestinal neuronal density in childhood: A baseline for the objective assessment of hypo- and hyperganglionosis

Pediatr Pathol

Morphometrische Charakerisierung des Plexus myentericus des Colons bei der isolierten and einer Hirschsprungassoziierten Hypoganglionose des Kindes

Inauguraldissertation