Association of Hirschsprung’s disease and anorectal malformation: a systematic review

Hofmann, Alejandro D.; Puri, Prem

doi:10.1007/s00383-013-3352-2

Cited by 32 publications

(17 citation statements)

References 36 publications

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“…The association of both diseases is very rare with reported incidence to be 2.3%-3.4% [1,6,11]. In this series incidence of HD association with ARM cases was 2.5%.…”

Section: Discussionmentioning

confidence: 67%

“…Fortunately these three patients responded to stoma wash outs to relieve their obstruction which referred to long segment affected and distal stoma construction (in aganglionic segment); the reported incidence of which was 35% [6]. The diagnosis was a surprise in cases 3 and 4 where they developed fecal discharge after colostomy closure that necessitates refashioning of stoma and rectal biopsy proved to be devoid of ganglion cell.…”

Section: Discussionmentioning

confidence: 94%

“…The diagnosis was a surprise in cases 3 and 4 where they developed fecal discharge after colostomy closure that necessitates refashioning of stoma and rectal biopsy proved to be devoid of ganglion cell. Diagnosis of this association sometimes may be difficult to make owing to the fact that the underlying ARM may be either masking the classical HD symptoms or these symptoms were misinterpreted as postoperative complications following ARM surgery [6]. Watanatittan et al [11] reported large series of this association and concluded that the diagnosis was delayed after full correction of ARM owing to atypical symptomatology and radiological findings.…”

Section: Discussionmentioning

confidence: 97%

“…The most common syndrome encountered with this association was Currarino syndrome (CS) followed by Down's syndrome [6]. The association of Down's syndrome and either HD or ARM is well known; 4.8% of Hirschsprung's patients had trisomy 21 [12,13]; where up to 2% of ARM cases had this syndrome [14].…”

Section: Discussionmentioning

confidence: 99%

“…HD usually presents early during neonatal or infancy period. However if HD is associated with ARM, this presentation may be delayed because of misinterpreted symptoms which may lead to morbidity and even mortality [5,6]. The aim of this study is to detect the frequency of this association and the warning signs for early diagnosis to avoid unnecessary surgical procedures and morbidity.…”

Section: Introductionmentioning

confidence: 96%

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

Eltayeb

Refaiy

2020

Journal of Pediatric Surgery

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“…The association of both diseases is very rare with reported incidence to be 2.3%-3.4% [1,6,11]. In this series incidence of HD association with ARM cases was 2.5%.…”

Section: Discussionmentioning

confidence: 67%

Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 96%

See 3 more Smart Citations

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

Eltayeb

Refaiy

2020

Journal of Pediatric Surgery

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Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister‐Hall syndrome

Eberhard

Mudd

et al. 2015

American J of Med Genetics Pt A

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Pallister-Hall syndrome is a complex malformation syndrome characterized by a wide range of anomalies including hypothalamic hamartoma, polydactyly, bifid epiglottis, and genitourinary abnormalities. It is usually caused by truncating frameshift/nonsense and splicing mutations in the middle third of GLI3. The clinical course ranges from mild to lethal in the neonatal period. We present the first patient with Pallister-Hall syndrome reported with total colonic aganglionosis, a rare form of Hirschsprung disease with poor long-term outcome. The patient also had an imperforate anus, which is the third individual with Pallister-Hall syndrome reported with both Hirschsprung disease and an imperforate anus. Molecular testing via amniocentesis showed an apparently de novo novel nonsense mutation c.2641 C>T (p.Gln881*). His overall medical course was difficult and was complicated by respiratory failure and pan-hypopituitarism. Invasive care was ultimately withdrawn, and the patient expired at three months of age. This patient's phenotype was complex with unusual gastrointestinal features ultimately leading to a unfavorable prognosis and outcome, highlighting the range of clinical severity in patients with Pallister-Hall syndrome.

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Genetics and Developmental Biology of Closed Dysraphic Conditions

Jones

Greene

Copp

2019

Occult Spinal Dysraphism

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Closed spinal dysraphic conditions are typically considered malformations of caudal development, and have prompted intense speculation on possible pathogenic mechanisms. Ultimately, an understanding of developmental processes, both normal and abnormal, requires an experimental evidence base. This chapter surveys the experimental literature for clues to the genetics and developmental biology of human spinal dysraphism, based largely on studies in mouse models.Current trends in human disease gene identification, and the development of mouse genetic disease models, are reviewed, as well as several key areas of developmental biology progress that relate to development of the caudal body axis. Open neural tube defects (e.g. myelomeningocele) are relatively well understood owing to the many mouse models of faulty neural tube closure. Closed lesions in which the spinal cord is tethered and associated with spinal lipoma are much less well represented in mouse models; only preliminary clues to their likely developmental origins can currently be discerned. Some closed sacro-caudal conditions have a more defined genetic and developmental biology basis: for example, dorsal and ventral vertebral anomalies, caudal regression syndrome and Currarino triad. A future concerted research effort is needed to bring together clinical observations with research in developmental biology in this important area of pediatric clinical management.

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Association of Hirschsprung’s disease and anorectal malformation: a systematic review

Abstract: The review confirms that the recognition of HD is often delayed because of the initial diagnosis of ARM and the fact that the dysfunctional colostomy is usually proximal to the affected aganglionotic bowel. There is a high incidence of associated syndromes when HD coexists with ARM.

Cited by 32 publications

References 36 publications

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

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

Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister‐Hall syndrome

Genetics and Developmental Biology of Closed Dysraphic Conditions

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