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Aganglionosis, total intestinal

MedGen UID:
83378
•Concept ID:
C0345240
•
Congenital Abnormality
Synonym: Rare form of Hirschsprung's disease
SNOMED CT: Total intestinal aganglionosis (204745000)
 
HPO: HP:0005241
Monarch Initiative: MONDO:0008738
OMIM®: 202550

Definition

A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel. [from HPO]

Clinical features

From HPO
Aganglionosis, total intestinal
MedGen UID:
83378
•Concept ID:
C0345240
•
Congenital Abnormality
A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.
See: Feature record | Search on this feature

Conditions with this feature

Aganglionosis, total intestinal
MedGen UID:
83378
•Concept ID:
C0345240
•
Congenital Abnormality
A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.
See: Condition Record
ABCD syndrome
MedGen UID:
333014
•Concept ID:
C1838099
•
Disease or Syndrome
ABCD syndrome (ABCDS) is an autosomal recessive disorder characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease), and deafness (summary by Verheij et al., 2002).
See: Condition Record
ABCD syndrome
Aganglionosis, total intestinal

Professional guidelines

PubMed

Evaluation and Management of Total Colonic Hirschsprung Disease: A Comprehensive Review From the American Pediatric Surgical Association (APSA) Hirschsprung Disease Interest Group.
Rentea RM, Bokova E, Frischer JS, Gosain A, Langer JC, Levitt MA, Nandivada P, Rialon KL, Rollins MD, Segura B, Wood RJ, Lim IIP; American Pediatric Surgical Association Hirschsprung Disease Interest Group
J Pediatr Surg 2024 Nov;59(11):161677. Epub 2024 Aug 10 doi: 10.1016/j.jpedsurg.2024.08.017. PMID: 39217005
Ernica Clinical Consensus Statements on Total Colonic and Intestinal Aganglionosis.
Granström AL, Irvine W, Hoel AT, Tabbers M, Kyrklund K, Fascetti-Leon F, Fusaro F, Thapar N, Dariel A, Sloots CEJ, Miserez M, Lemli A, Alexander S, Lambe C, Crétolle C, Qvist N, Schukfeh N, Lacher M, Cavalieri D, van Heurn E, Sfeir R, Pakarinen MP, Bjørnland K, Wester T
J Pediatr Surg 2024 Oct;59(10):161565. Epub 2024 Apr 26 doi: 10.1016/j.jpedsurg.2024.04.019. PMID: 38763854
Management strategies for infants with total intestinal aganglionosis.
Kimura O, Ono S, Furukawa T, Higuchi K, Deguchi E, Iwai N
J Pediatr Surg 2009 Aug;44(8):1564-7. doi: 10.1016/j.jpedsurg.2008.11.050. PMID: 19635306

Recent clinical studies

Etiology

Autologous Intestinal Reconstructive Surgery in the Management of Total Intestinal Aganglionosis.
Fusaro F, Morini F, Mutanen A, De Angelis P, Tambucci R, Capriati T, Hermans D, Candusso M, Diamanti A, Bagolan P, Pakarinen M
J Pediatr Gastroenterol Nutr 2019 May;68(5):635-641. doi: 10.1097/MPG.0000000000002260. PMID: 30614951
Clinical and genetic correlations of familial Hirschsprung's disease.
Moore SW, Zaahl M
J Pediatr Surg 2015 Feb;50(2):285-8. Epub 2014 Nov 7 doi: 10.1016/j.jpedsurg.2014.11.016. PMID: 25638620
Congenital aganglionic megacolon.
HAYS DM, NORRIS WJ
Calif Med 1956 Jun;84(6):403-6. PMID: 13316549Free PMC Article

Diagnosis

Volvulus with intestinal malrotation hiding a near-total intestinal aganglionosis: Case report.
Kerkeni Y, Hannachi W, Hamzaoui M
J Neonatal Perinatal Med 2020;13(3):431-433. doi: 10.3233/NPM-180083. PMID: 31771072
Autologous Intestinal Reconstructive Surgery in the Management of Total Intestinal Aganglionosis.
Fusaro F, Morini F, Mutanen A, De Angelis P, Tambucci R, Capriati T, Hermans D, Candusso M, Diamanti A, Bagolan P, Pakarinen M
J Pediatr Gastroenterol Nutr 2019 May;68(5):635-641. doi: 10.1097/MPG.0000000000002260. PMID: 30614951
Hemophagocytic lymphohistiocytosis presenting in a pediatric patient with near total colonic and small bowel aganglionosis: a case report.
Badal B, Wilsey MJ, Karjoo S
J Med Case Rep 2017 Aug 31;11(1):244. doi: 10.1186/s13256-017-1390-4. PMID: 28854959Free PMC Article
Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.
Yasui Y, Kohno M, Nishida S, Shironomae T, Satomi M, Kuwahara T, Takahashi S, Niida Y
Congenit Anom (Kyoto) 2017 Jan;57(1):32-34. doi: 10.1111/cga.12175. PMID: 27270827
Congenital aganglionic megacolon.
HAYS DM, NORRIS WJ
Calif Med 1956 Jun;84(6):403-6. PMID: 13316549Free PMC Article

Therapy

Volvulus with intestinal malrotation hiding a near-total intestinal aganglionosis: Case report.
Kerkeni Y, Hannachi W, Hamzaoui M
J Neonatal Perinatal Med 2020;13(3):431-433. doi: 10.3233/NPM-180083. PMID: 31771072
Two-Year-Old With a Limp and Suspected Nonaccidental Injury.
Manyapu M, Warraich GJ, Kugathasan S, Syed S
J Pediatr Gastroenterol Nutr 2018 Jul;67(1):e11. doi: 10.1097/MPG.0000000000001161. PMID: 29927873
The challenges of closing an ileostomy in patients with total intestinal aganglionosis after small bowel transplant.
Jazi FS, Sinclair TJ, Thorson CM, Castillo R, Bonham AC, Esquivel CO, Bruzoni M
Pediatr Surg Int 2018 Jan;34(1):113-116. Epub 2017 Nov 23 doi: 10.1007/s00383-017-4216-y. PMID: 29170900
Hemophagocytic lymphohistiocytosis presenting in a pediatric patient with near total colonic and small bowel aganglionosis: a case report.
Badal B, Wilsey MJ, Karjoo S
J Med Case Rep 2017 Aug 31;11(1):244. doi: 10.1186/s13256-017-1390-4. PMID: 28854959Free PMC Article

Prognosis

Skipped Aganglionic Lengthening Transposition (SALT) is highly effective to achieve enteral autonomy in selected patients with intestinal failure secondary to total intestinal aganglionosis.
Alhellani H, Mottadelli G, Erculiani M, Casaccia G, Caraccia M, Grandi A, Felici E, Pini Prato A
Pediatr Surg Int 2024 Mar 16;40(1):79. doi: 10.1007/s00383-024-05661-9. PMID: 38492075
Skipped aganglionic lengthening transposition (SALT) for short bowel syndrome in patients with total intestinal aganglionosis: technical report and feasibility.
Pini Prato A, Faticato MG, Falconi I, Felici E, Casaccia G, Caraccia M, Nozza P
Pediatr Surg Int 2020 Dec;36(12):1507-1510. Epub 2020 Oct 23 doi: 10.1007/s00383-020-04763-4. PMID: 33095274
Volvulus with intestinal malrotation hiding a near-total intestinal aganglionosis: Case report.
Kerkeni Y, Hannachi W, Hamzaoui M
J Neonatal Perinatal Med 2020;13(3):431-433. doi: 10.3233/NPM-180083. PMID: 31771072
Hemophagocytic lymphohistiocytosis presenting in a pediatric patient with near total colonic and small bowel aganglionosis: a case report.
Badal B, Wilsey MJ, Karjoo S
J Med Case Rep 2017 Aug 31;11(1):244. doi: 10.1186/s13256-017-1390-4. PMID: 28854959Free PMC Article
A meta-analysis of clinical outcome of intestinal transplantation in patients with total intestinal aganglionosis.
Nakamura H, Henderson D, Puri P
Pediatr Surg Int 2017 Aug;33(8):837-841. Epub 2017 Jun 9 doi: 10.1007/s00383-017-4107-2. PMID: 28600659

Clinical prediction guides

A Pilot Study: Transcriptional Profiling, Functional Analysis, and Organoid Modeling of Intestinal Mucosa in Hirschsprung Disease.
Lotakis DM, Dheer R, Dame MK, Cuttitta AJ, Tigani DJ, Spence JR, Young VB, Ralls MW
J Pediatr Surg 2023 Jun;58(6):1164-1169. Epub 2023 Feb 18 doi: 10.1016/j.jpedsurg.2023.02.020. PMID: 36922279
Clinical and genetic correlations of familial Hirschsprung's disease.
Moore SW, Zaahl M
J Pediatr Surg 2015 Feb;50(2):285-8. Epub 2014 Nov 7 doi: 10.1016/j.jpedsurg.2014.11.016. PMID: 25638620
Calretinin, β-tubulin immunohistochemistry, and submucosal nerve trunks morphology in Hirschsprung disease: possible applications in clinical practice.
Volpe A, Alaggio R, Midrio P, Iaria L, Gamba P
J Pediatr Gastroenterol Nutr 2013 Dec;57(6):780-7. doi: 10.1097/MPG.0b013e3182a934c7. PMID: 23969533

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