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Neuronal intestinal dysplasia

MedGen UID:
576840
•Concept ID:
C0345244
•
Disease or Syndrome
Synonym: Intestinal neuronal dysplasia
SNOMED CT: Neuronal intestinal dysplasia (253783001)
 
Monarch Initiative: MONDO:0000858

Professional guidelines

PubMed

A critical appraisal of the morphological criteria for diagnosing intestinal neuronal dysplasia type B.
Terra SA, de Arruda Lourenção PL, G Silva M, A Miot H, Rodrigues MAM
Mod Pathol 2017 Jul;30(7):978-985. Epub 2017 Mar 17 doi: 10.1038/modpathol.2017.4. PMID: 28304401
Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care pediatrician.
Burkardt DD, Graham JM Jr, Short SS, Frykman PK
Clin Pediatr (Phila) 2014 Jan;53(1):71-81. Epub 2013 Sep 3 doi: 10.1177/0009922813500846. PMID: 24002048
Classification and diagnostic criteria of variants of Hirschsprung's disease.
Friedmacher F, Puri P
Pediatr Surg Int 2013 Sep;29(9):855-72. doi: 10.1007/s00383-013-3351-3. PMID: 23943250

Recent clinical studies

Etiology

Appendicostomy stomas and antegrade colonic irrigation after laparoscopic antegrade continence enema.
Kim J, Beasley SW, Maoate K
J Laparoendosc Adv Surg Tech A 2006 Aug;16(4):400-3. doi: 10.1089/lap.2006.16.400. PMID: 16968193
Exclusion of linkage between RET and neuronal intestinal dysplasia type B.
Barone V, Weber D, Luo Y, Brancolini V, Devoto M, Romeo G
Am J Med Genet 1996 Mar 15;62(2):195-8. doi: 10.1002/(SICI)1096-8628(19960315)62:2<195::AID-AJMG15>3.0.CO;2-J. PMID: 8882403
The neuropathological diagnosis of neuronal intestinal dysplasia (NID B).
Meier-Ruge W, Gambazzi F, Käufeler RE, Schmid P, Schmidt CP
Eur J Pediatr Surg 1994 Oct;4(5):267-73. doi: 10.1055/s-2008-1066116. PMID: 7857882
Constipation in children.
Loening-Baucke V
Curr Opin Pediatr 1994 Oct;6(5):556-61. doi: 10.1097/00008480-199410000-00009. PMID: 7820202
Neuronal intestinal dysplasia.
Rintala R, Rapola J, Louhimo I
Prog Pediatr Surg 1989;24:186-92. doi: 10.1007/978-3-642-74493-8_20. PMID: 2513603

Diagnosis

Neuronal intestinal dysplasia.
Ryan DP
Semin Pediatr Surg 1995 Feb;4(1):22-5. PMID: 7728504
Neuronal intestinal dysplasia: a role for surgery?
Lugo-Vicente HL
Bol Asoc Med P R 1995 Mar-Apr;87(3-4):60-3. PMID: 7546026
The neuropathological diagnosis of neuronal intestinal dysplasia (NID B).
Meier-Ruge W, Gambazzi F, Käufeler RE, Schmid P, Schmidt CP
Eur J Pediatr Surg 1994 Oct;4(5):267-73. doi: 10.1055/s-2008-1066116. PMID: 7857882
Hirschsprung's disease and allied disorders--a review.
Holschneider AM, Meier-Ruge W, Ure BM
Eur J Pediatr Surg 1994 Oct;4(5):260-6. doi: 10.1055/s-2008-1066115. PMID: 7857881
Constipation in children.
Loening-Baucke V
Curr Opin Pediatr 1994 Oct;6(5):556-61. doi: 10.1097/00008480-199410000-00009. PMID: 7820202

Therapy

Massive hyperphosphatemia in a patient with neuronal intestinal dysplasia after bowel preparation with oral sodium phosphate.
Arikan H, Guler D, Birdal G, Nalcaci S, Aykut E, Ozcan C, Irmak R, Banzragch M, Arzu V
Ren Fail 2013 Jul;35(6):875-8. Epub 2013 May 28 doi: 10.3109/0886022X.2013.794704. PMID: 23713794
Appendicostomy stomas and antegrade colonic irrigation after laparoscopic antegrade continence enema.
Kim J, Beasley SW, Maoate K
J Laparoendosc Adv Surg Tech A 2006 Aug;16(4):400-3. doi: 10.1089/lap.2006.16.400. PMID: 16968193
Rectal suction biopsy: can it be sufficient to diagnose neuronal intestinal dysplasia?
Schmittenbecher PP, Schmidt A, Meier-Ruge W, Wiebecke B
Eur J Pediatr Surg 1995 Oct;5(5):277-9. doi: 10.1055/s-2008-1066224. PMID: 8555129
Constipation in children.
Loening-Baucke V
Curr Opin Pediatr 1994 Oct;6(5):556-61. doi: 10.1097/00008480-199410000-00009. PMID: 7820202
Anorectal electromanometry in the diagnosis of neuronal intestinal dysplasia in childhood.
Krebs C, Silva MC, Parra MA
Eur J Pediatr Surg 1991 Feb;1(1):40-4. doi: 10.1055/s-2008-1042457. PMID: 2031913

Prognosis

Neuronal intestinal dysplasia.
Ryan DP
Semin Pediatr Surg 1995 Feb;4(1):22-5. PMID: 7728504
The neuropathological diagnosis of neuronal intestinal dysplasia (NID B).
Meier-Ruge W, Gambazzi F, Käufeler RE, Schmid P, Schmidt CP
Eur J Pediatr Surg 1994 Oct;4(5):267-73. doi: 10.1055/s-2008-1066116. PMID: 7857882
Constipation in children.
Loening-Baucke V
Curr Opin Pediatr 1994 Oct;6(5):556-61. doi: 10.1097/00008480-199410000-00009. PMID: 7820202
Neuronal intestinal dysplasia: quantitative diagnostic criteria and clinical management.
Simpser E, Kahn E, Kenigsberg K, Duffy L, Markowitz J, Daum F
J Pediatr Gastroenterol Nutr 1991 Jan;12(1):61-4. PMID: 2061781
Neuronal intestinal dysplasia.
Rintala R, Rapola J, Louhimo I
Prog Pediatr Surg 1989;24:186-92. doi: 10.1007/978-3-642-74493-8_20. PMID: 2513603

Clinical prediction guides

Massive hyperphosphatemia in a patient with neuronal intestinal dysplasia after bowel preparation with oral sodium phosphate.
Arikan H, Guler D, Birdal G, Nalcaci S, Aykut E, Ozcan C, Irmak R, Banzragch M, Arzu V
Ren Fail 2013 Jul;35(6):875-8. Epub 2013 May 28 doi: 10.3109/0886022X.2013.794704. PMID: 23713794
An unusual cause of abdominal distension in a 4-year-old boy. Neuronal intestinal dysplasia.
Peng SS, Lee WT, Hsui WM
Gastroenterology 2011 Oct;141(4):e3-4. Epub 2011 Aug 29 doi: 10.1053/j.gastro.2010.06.083. PMID: 21878329
Intestinal pacemaker C-KIT+ cells and synapses in allied Hirschsprung's disorders.
Yamataka A, Ohshiro K, Kobayashi H, Fujiwara T, Sunagawa M, Miyano T
J Pediatr Surg 1997 Jul;32(7):1069-74. doi: 10.1016/s0022-3468(97)90401-2. PMID: 9247236
The neuropathological diagnosis of neuronal intestinal dysplasia (NID B).
Meier-Ruge W, Gambazzi F, Käufeler RE, Schmid P, Schmidt CP
Eur J Pediatr Surg 1994 Oct;4(5):267-73. doi: 10.1055/s-2008-1066116. PMID: 7857882
Ganglion cells in colonic mucosa.
Scurry J
J Paediatr Child Health 1990 Oct;26(5):280-2. doi: 10.1111/j.1440-1754.1990.tb01072.x. PMID: 1702297

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