Hirschsprung disease and anorectal malformation

Wetherill, C.; Sutcliffe, Jonathan

doi:10.1016/j.earlhumdev.2014.09.016

Cited by 35 publications

(16 citation statements)

References 13 publications

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“…Most frequent anomaly in our patients was anorectal malformation (3 cases, 2.3 %). This fi nding is in agreement with the reported incidence (2.3% to 3.4 %) of anorectal malformations in patients with Hirschsprung disease (55). One of the newest surgical procedures in HSCR with non-relaxing anal sphincter is application of intrasphincteric botulinum toxin (Botox).…”

Section: Hirschsprung Disease and Other Gastrointestinal Tract Anomaliessupporting

confidence: 82%

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease

Slavikova¹,

Zabojnikova²,

J³

et al. 2015

BLL

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The most common congenital gut motility disorder is the Hirschsprung disease (HSCR). This anomaly is characterized by absence of neural crest-derived enteric neuronal ganglia. The aim of our study was to analyze the relationship between HSCR and other congenital anomalies or malfunctions. We examined 130 patients with Hirschsprung disease from Slovakia for last 10 years. During patients examination we focused not only on morphological abnormalities, but also functional anomalies. The incidence of associated congenital anomalies in our patients with HSCR was 26.1 %. But if we add functional defects (hypothyroidism, malfunction in cellular immunity, neurological defi cit) to the morphological congenital abnormalities, the rate of the patients with HSCR with additional defects achieves 50.1 %. Nine of our patients (6.9 %) had syndromic HSCR. The most frequent disorder (13.6 % of patients) was primary defi ciency in cellular immunity. More than 12.3 % of patients with HSCR had genitourinary abnormalities, in 10.0 % of patients variable degree of psychomotor retardation was observed, and skeletal, muscle and limb anomalies involved 7.7 % of patients. In 7.6 % cases of patients we found congenital hypothyroidism (including 2 cases of agenesis of thyroid gland). More than 6.1 % of patients presented with an associated anomaly in gastrointestinal tract (mostly anorectal malformations). Up to 5.5 % patients had congenital anomaly of heart, 3.8 % had ophthalmic and 3.1 % had craniofacial anomalies. Down syndrome was the main diagnosis in 3.8 % patients. We discussed the relationship between HSCR and other anomalies, which are probably caused by abnormal migration, proliferation, or differentiation, of neural crest cells during embryogenesis (Tab. 1, Fig. 2, Ref. 75). Text in PDF www.elis.sk.

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Section: Hirschsprung Disease and Other Gastrointestinal Tract Anomaliessupporting

confidence: 82%

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease

Slavikova¹,

Zabojnikova²,

J³

et al. 2015

BLL

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“…1a). Increased cholinergic activity is limited to the aganglionic rectosigmoid distal colon and decreases in caudocranial direction 16, 33 . As a consequence, no extrinsic mucosal AChE + nerve fibers can be detected in the proximal aganglionic colon descendens (CD), with only few present in the intermuscular space.…”

Section: Resultsmentioning

confidence: 99%

“…Aganglionic tissue was characterized by the lack of intrinsic cell bodies and presence of extrinsic nerve fibers in the distal colon. Extrinsic nerve fibers were detected by enzymatic acetylcholinesterase (AChE) staining (Supplementary Table 2) 16, 33 . Study group characteristics (clinical and nonclinical variables) were evaluated via a parent questionnaire.…”

Section: Methodsmentioning

confidence: 99%

Lack of mucosal cholinergic innervation is associated with increased risk of enterocolitis in Hirschsprung’s disease

Keck

Galati-Fournier

Kym

et al. 2020

Preprint

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Background & AimsHirschsprung’s disease (HSCR) is a congenital intestinal motility disorder defined by the absence of enteric nervous cells (ganglia). The development of HSCR-associated enterocolitis remains a life-threatening complication. Absence of enteric ganglia implicates extramural innervation of acetylcholine-secreting (cholinergic) nerve fibers. Cholinergic signals have been reported to control excessive inflammation, but the impact on HSCR-associated enterocolitis is unknown.MethodsWe enrolled 44 HSCR patients in a prospective multicenter study and grouped them according to their degree of colonic mucosal cholinergic innervation using immunohistochemistry. The fiber phenotype was correlated with the tissue cytokine profile as well as immune cell frequencies using quantitative reverse-transcribed real-time polymerase chain reaction (qRT-PCR) of whole colonic tissue and fluorescence-activated cell sorting (FACS) analysis of isolated colonic immune cells. Fiber-associated immune cells were identified using confocal immunofluorescence microscopy and characterized by RNA-seq analysis. Microbial dysbiosis was analyzed in colonic patient tissue using 16S rDNA gene sequencing. Finally, the fiber phenotype was correlated with postoperative enterocolitis manifestation.ResultsWe provided evidence that extrinsic mucosal innervation correlated with reduced interleukin (IL)-17 cytokine levels and T-helper-17 (Th17) cell frequencies. Bipolar CD14high macrophages colocalized with neurons and expressed significantly less interleukin-23, a Th17-promoting cytokine. HSCR patients lacking mucosal cholinergic nerve fibers showed microbial dysbiosis and had a higher incidence of postoperative enterocolitis.ConclusionThe mucosal fiber phenotype might serve as a new prognostic marker for enterocolitis development in HSCR patients and may offer an approach to personalized patient care and new future therapeutic options. (www.clinicaltrials.gov accessing number NCT03617640)

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“…The most common congenital disorder of intestinal motility is HD, also known as congenital megacolon, which, despite its rarity, is the most serious entity among the pediatric intestinal motility disorders. 3 , 4 Congenital anorectal malformations include a series of congenital lesions ranging from a not so obvious malposition of the anus to complex anomalies of the hindgut and urogenital organs. In most cases, anorectal malformation present with the absence of anus in its normal position.…”

Section: Discussionmentioning

confidence: 99%

Constipation and Dilated Bowel: Hirschsprung’s Disease Is Not Always the Case

Deftereos

Foutzitzi

Karagiannakis³

et al. 2020

Clinics and Practice

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A case of a 2-month-old boy with constipation and a localized abdominal distension in the right abdomen and hypogastrium is presented. Plain radiograph, ultrasound exam as well as a barium enema were suggestive of Hirschsprung’s disease (HD) (ultrashort segment disease). Nevertheless, rectal suction biopsy was negative for neuronal abnormalities and unexpectedly on plain radiograph vertebral abnormalities were noticed. Subsequently magnetic resonance imaging of the spine and abdomen was performed, to evaluate possible spinal cord lesions and potential abnormalities of the perineal region musculature. A syringe throughout medullary cone was noted. The well-known issue, that the diagnosis of HD does not depend on the imaging (radiological) findings, was confirmed. The step-bystep diagnostic approach from the initial thought of ultrashort segment HD to the later imaging-based diagnosis of syringomyelia is discussed in this present paper.

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Hirschsprung disease and anorectal malformation

Cited by 35 publications

References 13 publications

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease

Lack of mucosal cholinergic innervation is associated with increased risk of enterocolitis in Hirschsprung’s disease

Constipation and Dilated Bowel: Hirschsprung’s Disease Is Not Always the Case

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