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Short-segment aganglionic megacolon

MedGen UID:
869014
•Concept ID:
C4023431
•
Congenital Abnormality
HPO: HP:0011284

Definition

A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort-segment aganglionic megacolon

Conditions with this feature

PCWH syndrome
MedGen UID:
373160
•Concept ID:
C1836727
•
Disease or Syndrome
PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see 118200), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see 142623) (Inoue et al., 2004). Inoue et al. (2004) proposed the acronym PCWH for this disorder.
See: Condition Record
Visceral neuropathy, familial, 2, autosomal recessive
MedGen UID:
1794160
•Concept ID:
C5561950
•
Disease or Syndrome
Autosomal recessive visceral neuropathy-2 (VSCN2) is characterized by intestinal dysmotility due to aganglionosis or hypoganglionosis of the colon. Patients also exhibit peripheral axonal neuropathy, ptosis, and sensorineural hearing loss (Le et al., 2021). For a discussion of genetic heterogeneity of VSCN, see VSCN1 (243180).
See: Condition Record
PCWH syndrome
Visceral neuropathy, familial, 2, autosomal recessive

Professional guidelines

PubMed

Management and outcomes for long-segment Hirschsprung disease: A systematic review from the APSA Outcomes and Evidence Based Practice Committee.
Kawaguchi AL, Guner YS, Sømme S, Quesenberry AC, Arthur LG, Sola JE, Downard CD, Rentea RM, Valusek PA, Smith CA, Slidell MB, Ricca RL, Dasgupta R, Renaud E, Miniati D, McAteer J, Beres AL, Grabowski J, Peter SDS, Gosain A; American Pediatric Surgical Association Outcomes and Evidence-Based Practice (OEBP) Committee
J Pediatr Surg 2021 Sep;56(9):1513-1523. Epub 2021 Mar 28 doi: 10.1016/j.jpedsurg.2021.03.046. PMID: 33993978Free PMC Article
Hirschsprung disease: Insights on genes, penetrance, and prenatal diagnosis.
Wang XJ, Camilleri M
Neurogastroenterol Motil 2019 Nov;31(11):e13732. doi: 10.1111/nmo.13732. PMID: 31609069
Clinical features' diagnostics and treatment of Hirschsprung's disease in adults.
Vorobyov GI, Achkasov SI, Biryukov OM
Colorectal Dis 2010 Dec;12(12):1242-8. doi: 10.1111/j.1463-1318.2009.02031.x. PMID: 19674017

Recent clinical studies

Etiology

Risk factors for Hirschsprung disease-associated enterocolitis: a systematic review and meta-analysis.
Zhang X, Sun D, Xu Q, Liu H, Li Y, Wang D, Wang J, Zhang Q, Hou P, Mu W, Jia C, Li A
Int J Surg 2023 Aug 1;109(8):2509-2524. doi: 10.1097/JS9.0000000000000473. PMID: 37288551Free PMC Article
Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.
Xiao J, Hao LW, Wang J, Yu XS, You JY, Li ZJ, Mao HD, Meng XY, Feng JX
World J Pediatr 2023 Jul;19(7):644-651. Epub 2023 Mar 1 doi: 10.1007/s12519-023-00686-x. PMID: 36857021Free PMC Article
Management and outcomes for long-segment Hirschsprung disease: A systematic review from the APSA Outcomes and Evidence Based Practice Committee.
Kawaguchi AL, Guner YS, Sømme S, Quesenberry AC, Arthur LG, Sola JE, Downard CD, Rentea RM, Valusek PA, Smith CA, Slidell MB, Ricca RL, Dasgupta R, Renaud E, Miniati D, McAteer J, Beres AL, Grabowski J, Peter SDS, Gosain A; American Pediatric Surgical Association Outcomes and Evidence-Based Practice (OEBP) Committee
J Pediatr Surg 2021 Sep;56(9):1513-1523. Epub 2021 Mar 28 doi: 10.1016/j.jpedsurg.2021.03.046. PMID: 33993978Free PMC Article
Hirschsprung-associated congenital anomalies.
Sarioglu A, Tanyel FC, Büyükpamukçu N, Hiçsönmez A
Eur J Pediatr Surg 1997 Dec;7(6):331-7. doi: 10.1055/s-2008-1071186. PMID: 9493983
Surgery for constipation: a review.
Pfeifer J, Agachan F, Wexner SD
Dis Colon Rectum 1996 Apr;39(4):444-60. doi: 10.1007/BF02054062. PMID: 8878507

Diagnosis

Risk factors for Hirschsprung disease-associated enterocolitis: a systematic review and meta-analysis.
Zhang X, Sun D, Xu Q, Liu H, Li Y, Wang D, Wang J, Zhang Q, Hou P, Mu W, Jia C, Li A
Int J Surg 2023 Aug 1;109(8):2509-2524. doi: 10.1097/JS9.0000000000000473. PMID: 37288551Free PMC Article
Are We Underdiagnosing Hirschsprung Disease?
Kapur RP, Ambartsumyan L, Smith C
Pediatr Dev Pathol 2020 Jan-Feb;23(1):60-71. Epub 2019 Nov 20 doi: 10.1177/1093526619889434. PMID: 31747832
Hirschsprung disease: Insights on genes, penetrance, and prenatal diagnosis.
Wang XJ, Camilleri M
Neurogastroenterol Motil 2019 Nov;31(11):e13732. doi: 10.1111/nmo.13732. PMID: 31609069
Total colonic aganglionosis and Hirschsprung's disease: a review.
Moore SW
Pediatr Surg Int 2015 Jan;31(1):1-9. Epub 2014 Oct 31 doi: 10.1007/s00383-014-3634-3. PMID: 25367097
Hirschsprung-associated congenital anomalies.
Sarioglu A, Tanyel FC, Büyükpamukçu N, Hiçsönmez A
Eur J Pediatr Surg 1997 Dec;7(6):331-7. doi: 10.1055/s-2008-1071186. PMID: 9493983

Therapy

Bowel function at preschool and early childhood age in children with long-segment Hirschsprung disease.
Lu C, Pan S, Hua X, Jiang W, Tang W
Eur J Pediatr 2023 Mar;182(3):1251-1259. Epub 2023 Jan 12 doi: 10.1007/s00431-023-04814-7. PMID: 36633657
Optimal timing for Soave primary pull-through in short-segment Hirschsprung disease: A meta-analysis.
Westfal ML, Okiemy O, Chung PHY, Feng J, Lu C, Miyano G, Tam PKH, Tang W, Wong KKY, Yamataka A, Guyer RA, Doody DP, Goldstein AM
J Pediatr Surg 2022 Apr;57(4):719-725. Epub 2021 Jul 21 doi: 10.1016/j.jpedsurg.2021.07.007. PMID: 34330420Free PMC Article
Functional outcomes of patients with short-segment Hirschsprung disease after transanal endorectal pull-through.
Gunadi, Ivana G, Mursalin DA, Pitaka RT, Zain MW, Puspitarani DA, Afandy D, Simanjaya S, Dwihantoro A, Makhmudi A
BMC Gastroenterol 2021 Feb 23;21(1):85. doi: 10.1186/s12876-021-01668-x. PMID: 33622253Free PMC Article
Predictive factors for the development of postoperative Hirschsprung-associated enterocolitis in children operated during infancy.
Sakurai T, Tanaka H, Endo N
Pediatr Surg Int 2021 Feb;37(2):275-280. Epub 2020 Nov 27 doi: 10.1007/s00383-020-04784-z. PMID: 33245447
Clinical outcomes and ergonomics analysis of three laparoscopic techniques for Hirschsprung's disease.
Aubdoollah TH, Li K, Zhang X, Li S, Yang L, Lei HY, Dolo PR, Xiang XC, Cao GQ, Wang GB, Tang ST
World J Gastroenterol 2015 Aug 7;21(29):8903-11. doi: 10.3748/wjg.v21.i29.8903. PMID: 26269680Free PMC Article

Prognosis

Risk factors for Hirschsprung disease-associated enterocolitis: a systematic review and meta-analysis.
Zhang X, Sun D, Xu Q, Liu H, Li Y, Wang D, Wang J, Zhang Q, Hou P, Mu W, Jia C, Li A
Int J Surg 2023 Aug 1;109(8):2509-2524. doi: 10.1097/JS9.0000000000000473. PMID: 37288551Free PMC Article
Are We Underdiagnosing Hirschsprung Disease?
Kapur RP, Ambartsumyan L, Smith C
Pediatr Dev Pathol 2020 Jan-Feb;23(1):60-71. Epub 2019 Nov 20 doi: 10.1177/1093526619889434. PMID: 31747832
NRG1 variant effects in patients with Hirschsprung disease.
Gunadi, Budi NYP, Sethi R, Fauzi AR, Kalim AS, Indrawan T, Iskandar K, Makhmudi A, Adrianto I, San LP
BMC Pediatr 2018 Sep 4;18(1):292. doi: 10.1186/s12887-018-1265-x. PMID: 30180823Free PMC Article
Abundance and significance of neuroligin-1 and glutamate in Hirschsprung's disease.
Wang J, Du H, Mou YR, Niu JY, Zhang WT, Yang HC, Li AW
World J Gastroenterol 2015 Jun 21;21(23):7172-80. doi: 10.3748/wjg.v21.i23.7172. PMID: 26109803Free PMC Article
Hirschsprung-associated congenital anomalies.
Sarioglu A, Tanyel FC, Büyükpamukçu N, Hiçsönmez A
Eur J Pediatr Surg 1997 Dec;7(6):331-7. doi: 10.1055/s-2008-1071186. PMID: 9493983

Clinical prediction guides

Long-term bowel function after single-stage transanal endorectal pull-through in neonatal patients with Hirschsprung disease.
Liu Z, Zhang Y, Li S, Zhao J, Yang T, Huang J
Pediatr Surg Int 2023 Aug 29;39(1):255. doi: 10.1007/s00383-023-05517-8. PMID: 37642732
Are We Underdiagnosing Hirschsprung Disease?
Kapur RP, Ambartsumyan L, Smith C
Pediatr Dev Pathol 2020 Jan-Feb;23(1):60-71. Epub 2019 Nov 20 doi: 10.1177/1093526619889434. PMID: 31747832
NRG1 variant effects in patients with Hirschsprung disease.
Gunadi, Budi NYP, Sethi R, Fauzi AR, Kalim AS, Indrawan T, Iskandar K, Makhmudi A, Adrianto I, San LP
BMC Pediatr 2018 Sep 4;18(1):292. doi: 10.1186/s12887-018-1265-x. PMID: 30180823Free PMC Article
Abundance and significance of neuroligin-1 and glutamate in Hirschsprung's disease.
Wang J, Du H, Mou YR, Niu JY, Zhang WT, Yang HC, Li AW
World J Gastroenterol 2015 Jun 21;21(23):7172-80. doi: 10.3748/wjg.v21.i23.7172. PMID: 26109803Free PMC Article
Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.
Moore SW
Pediatr Surg Int 2012 Nov;28(11):1045-58. Epub 2012 Sep 23 doi: 10.1007/s00383-012-3175-6. PMID: 23001136

Recent systematic reviews

Risk factors for Hirschsprung disease-associated enterocolitis: a systematic review and meta-analysis.
Zhang X, Sun D, Xu Q, Liu H, Li Y, Wang D, Wang J, Zhang Q, Hou P, Mu W, Jia C, Li A
Int J Surg 2023 Aug 1;109(8):2509-2524. doi: 10.1097/JS9.0000000000000473. PMID: 37288551Free PMC Article
Management and outcomes for long-segment Hirschsprung disease: A systematic review from the APSA Outcomes and Evidence Based Practice Committee.
Kawaguchi AL, Guner YS, Sømme S, Quesenberry AC, Arthur LG, Sola JE, Downard CD, Rentea RM, Valusek PA, Smith CA, Slidell MB, Ricca RL, Dasgupta R, Renaud E, Miniati D, McAteer J, Beres AL, Grabowski J, Peter SDS, Gosain A; American Pediatric Surgical Association Outcomes and Evidence-Based Practice (OEBP) Committee
J Pediatr Surg 2021 Sep;56(9):1513-1523. Epub 2021 Mar 28 doi: 10.1016/j.jpedsurg.2021.03.046. PMID: 33993978Free PMC Article
The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.
Coyle D, Friedmacher F, Puri P
Pediatr Surg Int 2014 Aug;30(8):751-6. Epub 2014 Jun 28 doi: 10.1007/s00383-014-3538-2. PMID: 24972642

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