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Short segment Hirschsprung disease

MedGen UID:
576836
•Concept ID:
C0345237
•
Congenital Abnormality
Synonyms: Short Segment Hirschsprung Disease; Short segment Hirschsprung's disease
SNOMED CT: Short segment Hirschsprung disease (204741009); Short segment Hirschsprung's disease (204741009)

Definition

The most common form of Hirschsprung Disease, this is characterized by a lack of nerve cells in the sigmoid colon and rectum. The bowel is not stimulated without innervation and obstruction ensues. Surgical intervention is necessary. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort segment Hirschsprung disease

Professional guidelines

PubMed

Machine learning-based quantitative analysis of barium enema and clinical features for early diagnosis of short-segment Hirschsprung disease in neonate.
Huang SG, Qian XS, Cheng Y, Guo WL, Zhou ZY, Dai YK
J Pediatr Surg 2021 Oct;56(10):1711-1717. Epub 2021 May 24 doi: 10.1016/j.jpedsurg.2021.05.006. PMID: 34120738
Chronic constipation in Turkish children: clinical findings and applicability of classification criteria.
Aydoğdu S, Cakir M, Yüksekkaya HA, Arikan C, Tümgör G, Baran M, Yağci RV
Turk J Pediatr 2009 Mar-Apr;51(2):146-53. PMID: 19480326

Recent clinical studies

Etiology

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
Optimal time for single-stage pull-through colectomy in infants with short-segment Hirschsprung disease.
Zhu T, Sun X, Wei M, Yi B, Zhao X, Wang W, Feng J
Int J Colorectal Dis 2019 Feb;34(2):255-259. Epub 2018 Oct 27 doi: 10.1007/s00384-018-3179-3. PMID: 30368570
Spectrum of Clinicopathological Deviations in Long-Segment Hirschsprung Disease Compared With Short-Segment Hirschsprung Disease: A Single-Institution Study.
Alnajar H, Murro D, Alsadi A, Jakate S
Int J Surg Pathol 2017 May;25(3):216-221. Epub 2016 Oct 27 doi: 10.1177/1066896916675729. PMID: 27784831
Calretinin-immunoreactive mucosal innervation in very short-segment Hirschsprung disease: a potentially misleading observation.
Kapur RP
Pediatr Dev Pathol 2014 Jan-Feb;17(1):28-35. Epub 2013 Oct 29 doi: 10.2350/13-10-1387-OA.1. PMID: 24168728

Diagnosis

Machine learning-based quantitative analysis of barium enema and clinical features for early diagnosis of short-segment Hirschsprung disease in neonate.
Huang SG, Qian XS, Cheng Y, Guo WL, Zhou ZY, Dai YK
J Pediatr Surg 2021 Oct;56(10):1711-1717. Epub 2021 May 24 doi: 10.1016/j.jpedsurg.2021.05.006. PMID: 34120738
Optimal time for single-stage pull-through colectomy in infants with short-segment Hirschsprung disease.
Zhu T, Sun X, Wei M, Yi B, Zhao X, Wang W, Feng J
Int J Colorectal Dis 2019 Feb;34(2):255-259. Epub 2018 Oct 27 doi: 10.1007/s00384-018-3179-3. PMID: 30368570
Spectrum of Clinicopathological Deviations in Long-Segment Hirschsprung Disease Compared With Short-Segment Hirschsprung Disease: A Single-Institution Study.
Alnajar H, Murro D, Alsadi A, Jakate S
Int J Surg Pathol 2017 May;25(3):216-221. Epub 2016 Oct 27 doi: 10.1177/1066896916675729. PMID: 27784831
Growth and developmental outcomes of infants with hirschsprung disease presenting in the neonatal period: a retrospective study.
More K, Rao S, McMichael J, Minutillo C
J Pediatr 2014 Jul;165(1):73-77.e2. Epub 2014 Apr 8 doi: 10.1016/j.jpeds.2014.02.062. PMID: 24721468
Calretinin-immunoreactive mucosal innervation in very short-segment Hirschsprung disease: a potentially misleading observation.
Kapur RP
Pediatr Dev Pathol 2014 Jan-Feb;17(1):28-35. Epub 2013 Oct 29 doi: 10.2350/13-10-1387-OA.1. PMID: 24168728

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
Calretinin-Immunoreactive Hypoinnervation in Down Syndrome (DS): Report of an Infant with Very Short-Segment Hirschsprung Disease and Comparison to Biopsy Findings in 20 Normal Infants and 11 Infants with DS and Chronic Constipation.
Warren M, Kaul A, Bove KE
Pediatr Dev Pathol 2016 Mar-Apr;19(2):87-93. Epub 2015 Jul 31 doi: 10.2350/15-01-1602-OA.1. PMID: 26230373
Comparative Analysis of Modified Laparoscopic Swenson and Laparoscopic Soave Procedure for Short-Segment Hirschsprung Disease in Children.
Deng X, Wu Y, Zeng L, Zhang J, Zhou J, Qiu R
Eur J Pediatr Surg 2015 Oct;25(5):430-4. Epub 2014 Aug 11 doi: 10.1055/s-0034-1384647. PMID: 25111270

Prognosis

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
Optimal time for single-stage pull-through colectomy in infants with short-segment Hirschsprung disease.
Zhu T, Sun X, Wei M, Yi B, Zhao X, Wang W, Feng J
Int J Colorectal Dis 2019 Feb;34(2):255-259. Epub 2018 Oct 27 doi: 10.1007/s00384-018-3179-3. PMID: 30368570
Calretinin-Immunoreactive Hypoinnervation in Down Syndrome (DS): Report of an Infant with Very Short-Segment Hirschsprung Disease and Comparison to Biopsy Findings in 20 Normal Infants and 11 Infants with DS and Chronic Constipation.
Warren M, Kaul A, Bove KE
Pediatr Dev Pathol 2016 Mar-Apr;19(2):87-93. Epub 2015 Jul 31 doi: 10.2350/15-01-1602-OA.1. PMID: 26230373
Rectal myectomy in Hirschsprung disease: a decade of experience.
Lynn HB, van Heerden JA
Arch Surg 1975 Aug;110(8):991-4. doi: 10.1001/archsurg.1975.01360140135026. PMID: 1156163

Clinical prediction guides

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
Calretinin-Immunoreactive Hypoinnervation in Down Syndrome (DS): Report of an Infant with Very Short-Segment Hirschsprung Disease and Comparison to Biopsy Findings in 20 Normal Infants and 11 Infants with DS and Chronic Constipation.
Warren M, Kaul A, Bove KE
Pediatr Dev Pathol 2016 Mar-Apr;19(2):87-93. Epub 2015 Jul 31 doi: 10.2350/15-01-1602-OA.1. PMID: 26230373
Growth and developmental outcomes of infants with hirschsprung disease presenting in the neonatal period: a retrospective study.
More K, Rao S, McMichael J, Minutillo C
J Pediatr 2014 Jul;165(1):73-77.e2. Epub 2014 Apr 8 doi: 10.1016/j.jpeds.2014.02.062. PMID: 24721468
Calretinin-immunoreactive mucosal innervation in very short-segment Hirschsprung disease: a potentially misleading observation.
Kapur RP
Pediatr Dev Pathol 2014 Jan-Feb;17(1):28-35. Epub 2013 Oct 29 doi: 10.2350/13-10-1387-OA.1. PMID: 24168728
Point nucleotidic changes in both the RET proto-oncogene and the endothelin-B receptor gene in a Hirschsprung disease patient associated with Down syndrome.
Sakai T, Wakizaka A, Nirasawa Y, Ito Y
Tohoku J Exp Med 1999 Jan;187(1):43-7. doi: 10.1620/tjem.187.43. PMID: 10458491

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