Association of Hirschsprung's disease with anorectal malformations: the early alarming signs for diagnosis and comorbidity related to this association

Eltayeb, Almoutaz A.; Refaiy, Abeer

doi:10.1016/j.jpedsurg.2014.04.007

Cited by 8 publications

(3 citation statements)

References 11 publications

(18 reference statements)

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“…Children with medium-high ARM often need a diverting stoma. The position of the stoma above the absence of the ganglia does not produce the typical distended symptoms (9,10). Due to defects in the development of the anal sphincter, pelvic floor muscle, and pelvic nerve, infants with ARM frequently experience postoperative defecation dysfunction, such as constipation and fecal fouling (11).…”

Section: Discussionmentioning

confidence: 99%

Anorectal malformation combined with Hirschsprung's disease: a case report

et al. 2023

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Anorectal malformation (ARM) and Hirschsprungs disease (HSCR) are frequently associated with other congenital malformations, but rarely with one another. We describe the case of a child with intermediate anorectal malformation who underwent ARM correction. This child experienced recurrent postoperative symptoms, including intestinal obstruction, nutrition intolerance, and weight loss. The child was diagnosed with Hirschsprung's disease by colon barium contrast and pathological findings from a rectal biopsy, and subsequently underwent pull -through procedure after conservative treatment failed. After six months of postoperative follow-up, the patient still experiences occasional episodes of enteritis, but the symptoms are substantially less severe than they were before surgery, and the patient's weight is slowly increasing. We described a case of a child who had ARM combined with HSCR. Although the association between ARM and HSCR is uncommon, severe constipation or enteritis following complete correction of ARM in the absence of anal stricture should prompt consideration for HSCR. Before the second stage of ARM surgery, pay close attention to the barium enema examination, as an abnormal shape may indicate the presence of HSCR.

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Section: Discussionmentioning

confidence: 99%

Anorectal malformation combined with Hirschsprung's disease: a case report

et al. 2023

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“…Measuring healthy children younger than 24 months is not allowed for ethical reasons. We, therefore, included patients suspected of Hirschsprung disease as a negative control group for CARM because CARM and Hirschsprung disease coexistence is rare ( 10 ). All patients were measured at the Anorectal Physiology Laboratory at University Medical Center Groningen, the Netherlands, between March 2015 and January 2021.…”

Section: Methodsmentioning

confidence: 99%

Diagnosing Mild Forms of Anorectal Malformation With Anorectal Manometry: A Prospective Study

et al. 2022

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INTRODUCTION: Rectoperineal congenital anorectal malformations (CARMs) are diagnosed by examining the perineum, combined with electric stimulation (ES) of the anal sphincter performed under anesthesia. This procedure may be troublesome because it is based on the observed contractibility of the sphincter. We aimed to add 3-dimensional high-resolution anorectal manometry (3D-HRAM) to the procedure and to assess its value for diagnosing rectoperineal forms of CARM. METHODS: We prospectively included 66 patients younger than 24 months who presented with constipation and were suspected of CARM, idiopathic constipation, or Hirschsprung disease. The patients were assessed between 2015 and 2021 at University Medical Center Groningen, the Netherlands. All patients underwent 3D-HRAM, followed by the standard diagnostic procedure for either CARM or Hirschsprung disease. RESULTS: Of the 51 patients who underwent both 3D-HRAM and ES, we observed that patients with rectoperineal CARM revealed a pressure gap along the anterior part of the anal sphincter. Based on this observation, we diagnosed 35 patients with CARM. Subsequently, all 35 diagnoses were confirmed with ES. Sixteen patients were diagnosed as not having CARM, 100% of whom were in agreement with the gold standard—ES. Both the specificity and sensitivity of 3D-HRAM for diagnosing rectoperineal CARM were 100%. DISCUSSION: We consider 3D-HRAM a reliable tool for diagnosing and excluding rectoperineal CARM. Using this method in patients suspected of CARM might keep infants from undergoing unnecessary interventions requiring anesthetics, such as ES. By providing objective insight into the functional capabilities of the anal sphincter, anorectal manometry adds to the diagnosis.

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“…We identify HSCR as a congenital disease. It has been described a correlation between the occurrence of HSCR and anorectal malformations [14,15]. The anal expansion operation was performed in the newborn, But the difficulty of defecating has not been eliminated.…”

Section: Case Presentation Participants and Clinical Diagnosismentioning

confidence: 99%

GDNF and GUCY2C mutation associated with Hirschsprung's disease in a trio pedigree: a case report

Chai

Deng

Sun

et al. 2020

Preprint

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Background: Hirschsprung's disease (HSCR) caused by absence or dysfunction of ganglion cells in the submucosal plexus and intermuscular plexus of the intestinal wall. Studies have shown that homozygous mutations of glial cell-line derived neurotrophic factor ( GDNF ) can lead to the occurrence of HSCR. but heterozygous mutation must combine with other related abnormal genes could to cause the HSCR. The other Guanylyl cyclase C ( GUCY2C ) gene is rarely reported as a direct cause of HSCR. Our findings Provides a new perspective for application of mutation screening in the genetic counseling.Case presentation: We report clinical and genetic findings of a trio pedigree with Hirschsprung's disease. Whole exome sequencing and Sanger sequencing were performed for propositus and all members of trio pedigree, respectively. We also collected 74 healthy control samples and used Sanger sequencing to identify that found the mutation. We first described the rare trio pedigree of HSCR caused by two special genes of GDNF (p.Arg93Gln) and GUCY2C (p.Tyr1072Cys). Studies have found that mutations in GDNF alone do not cause HSCR symptom, so is propositus’ mother in this study. Common mutation of GDNF gene mutation inherited from mother of proband, but the rare mutation of GUCY2C from the father. None of the parents showed HSCR phenotype. We provide evidence for the causative role of the two variants.Conclusions: Our study found that GDNF and GUCY2C together lead to the occurrence of HSCR. This finding expands the genotype spectrum and increases knowledge on the genetic molecular mechanisms of the HSCR. Our findings will provide help for the screening of pathogenic genes of HSCR.

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Association of Hirschsprung's disease with anorectal malformations: the early alarming signs for diagnosis and comorbidity related to this association

Cited by 8 publications

References 11 publications

Anorectal malformation combined with Hirschsprung's disease: a case report

Anorectal malformation combined with Hirschsprung's disease: a case report

Diagnosing Mild Forms of Anorectal Malformation With Anorectal Manometry: A Prospective Study

GDNF and GUCY2C mutation associated with Hirschsprung's disease in a trio pedigree: a case report

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