Hirschsprung's disease, one of the most difficult diagnoses in pediatric surgery: A review of the problems from clinical practice to the bench

European Journal of Pediatric Surgery

Volumn 18, Issue 3, 2008, Pages 140-149

  Martucciello, Giuseppe ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

Enteric nervous system (ENS); Hirschsprung's disease (HSCR); Histochemistry; Intestinal neuronal dysplasia (IND); Lyophilization

Indexed keywords

BARIUM SULFATE; IOPAMIDOL;

BIOPSY TECHNIQUE; CLINICAL FEATURE; CLINICAL PRACTICE; DIAGNOSTIC PROCEDURE; ENZYME HISTOCHEMISTRY; HIRSCHSPRUNG DISEASE; HUMAN; INTESTINE RADIOGRAPHY; PEDIATRIC SURGERY; REVIEW;

ALGORITHMS; BIOPSY; HIRSCHSPRUNG DISEASE; HUMANS; INFANT; INFANT, NEWBORN; INTESTINES; LAPAROSCOPY;

EID: 44849092542     PISSN: 09397248     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1038625     Document Type: Review

References (77)

1. Amiel J, Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 2001; 38: 729-739
2. Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys CH, Cass DT, Chakravarti A. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet 1995; 4: 821-830
3. Attie T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fékété C, Munnich A. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet 1995; 4: 1381-1386
4. Badner JA, Sieber WK, Garver KL, Chakravarti A. A genetic study of Hirschsprung disease. AM J Hum Genet 1990; 46: 568-580
5. Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D, Buys CH, Lyonnet S, Chakravarti A. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci USA 2000; 97: 268-273
6. Borchard F, Meier-Ruge W, Wiebecke B, Briner J, Müntefering H, Födisch HF, Holschneider AM, Schmidt A, Enck P, Stolte M. Disorders of the innervation of the large intestine - classification and diagnosis. Results of a consensus conference of the Society of Gastroenteropathology 1 December 1990 in Frankfurt/Main. Pathologe 1991; 12: 171-174
7. Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, Lopez-Alonso M, Hernández A, Wright FA, Antiñolo G, Eng C. RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet 2000; 37: 572-578
8. Brizzolara A, Favre A, Schäfer KH, Michelazzi A, Sanguined M, Martucciello G, Jasonni V. Mouse-isolated plexus differentiates neural crest precursors into enteric neuroblasts. Eur J Pediatr Surg 2002; 12: 391-396
9. Brizzolara A, Torre M, Favre A, Pini Prato A, Bocciardi R, Martucciello G. Histochemical study of Dom mouse: a model for Waardenburg-Hirschsprung's phenotype. J Pediatr Surg 2004; 39: 1098-1103
10. Bruder E, Meier-Ruge WA. Intestinal neuronal dysplasia type B: how do we understand it today? Pathologe 2007; 28: 137-142
11. Bruder E, Terracciano LM, Passarge E, Meier-Ruge WA. Enzyme histochemistry of classical and ultrashort Hirschsprung's disease. Pathologe 2007; 28: 105-112
12. Chakravarti A, Lyonnet S. Hirschsprung disease. In: Scriver CR, Beaudet AL, Valle D, Sly W (eds). The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2000: 6203-6230
13. Dasgupta R, Langer JC. Hirschsprung disease. Curr Probl Surg 2004; 41: 942-988
14. Davis BJ, Ornstein L. High resolution enzyme localisation with a new diazo reagent, "hexazonium pararosaniline". J Hist Cyt 1959; 7: 297
15. de Lorijn F, Kremer LC, Reitsma JB, Benninga MA. Diagnostic tests in Hirschsprung disease: a systematic review. J Pediatr Gastroenterol Nutr 2006; 42: 496-505
16. Deucher F, Nöthiger F. Surgical treatment of ulcerative colitis. Chirurg 1977; 48: 563-568
17. Dodero P, Martucciello G. Hirschsprung's disease: alpha-naphthyl-esterase activity in the enzyme-histochemical evaluation of the extent of the aganglionic segment during surgery. Pediatr Surg Int 1988; 4: 269-274
18. Dzienis-Koronkiewicz E, Debek W, Chyczewski L. Use of synaptophysin immunohistochemistry in intestinal mobility disorders. Eur J Ped Surg 2005; 15: 392-398
19. Ehrenpreis T. Hirschsprung's disease. Am J Dig Dis 1971; 16: 1032-1052
20. Fadda B, Maier WA, Meier-Ruge W, Schärli A, Daum R. Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis. Z Kinderchir 1983; 38: 305-311
21. Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attié-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 2002; 31: 89-93
22. Georgeson KE. Laparoscopic-assisted total colectomy with pouch reconstruction. Semin Pediatr Surg 2002; 11: 233-236
23. Grand RJ, Homer DR. Approaches to inflammatory bowel disease in childhood and adolescence. Pediatr Clin North Am 1975; 22: 835-850
24. Griseri P, Pesce B, Patrone G, Osinga J, Puppo F, Sancandi M, Hofstra R, Romeo G, Ravazzolo R, Devoto M, Ceccherini I. A rare haplotype of the RET proto-oncogene is a risk-modifying allele in Hirschsprung disease. Am J Hum Genet 2002; 71: 969-974
25. Griseri P, Sancandi M, Patrone G, Bocciardi R, Hofstra R, Ravazzolo R, Devoto JM, Romeo G, Ceccherini I. A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease. Eur J Hum Genet 2000; 8: 721-724
26. Gunnarsdottir A, Wierup N, Larsoon LT, Kuharb MJ, Ekblad E. CART-peptide immunoreactivity in enteric nerves in patients with Hirschspurng's disease. Eur J Pediatric Surg 2007; 17: 184-189
27. Holschneider A, Kunst M. Anal sphincter achalasia and ultrashort Hirschsprung's disease. In: Holschneider A, Puri P (eds). Hirschsprung's Disease and Allied Disorders. 3rded. Berlin, Heidelberg, New York: Springer, 2008: 297-322
28. Holschneider A, Steinwegs I. Functional diagnosis. In: Holschneider A, Puri P (eds). Hirschsprung's Disease and Allied Disorders. 3rd ed. Berlin, Heidelberg, New York: Springer, 2008: 133-184
29. Huntley CC, Shaffner LD, Challa VR, Lyerly AD. Histochemical diagnosis of Hirschsprung disease. Pediatric 1982; 69: 755-761
30. Ito S, Iwashita T, Asai N, Murakami H, Iwata Y, Sobue G, Takohoshi M. Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. Cancer Res 1997; 57: 2870-2872
31. Jasonni J, Pini Prato A, Martucciello G. Soave's extramucosal endorectal pull-through procedure. In: Holschneider A, Puri P (eds). Hirschsprung's Disease and Allied Disorders. 3rded. Berlin, Heidelberg, New York: Springer, 2008: 337-348
32. Kaiser G, Bettex M. Terminology and classification. In: Holschneider A (ed). Hirschsprung's Disease. 1st ed. Stuttgart: Thieme Stratton, 1982: 42-47
33. Kapur RP. Can we stop looking? Immunohistochemistry and the diagnosis of Hirschsprung disease. Am J Clin Pathol 2006; 126: 9-12
34. Karnovsky MJ, Roots L. A "direct colorino" thiocholine method for cholinesterases. J Histochem Cytochem 1964; 12: 219-221
35. Kawahara H, Kubota A, Hasegawa T, Okuyama H, Ueno T, Watanabe T, Morishita Y, Saka R, Fukuzawa M. Anorectal sleeve micromanometry for the diagnosis of Hirschsprung's disease in newborns. J Pediatr Surg 2007; 42: 2075-2079
36. Kelleher J, Blake N. Diagnosis of Hirschsprung's disease and allied disorders. In: Holschneider A, Puri P (eds). Hirschsprung's Disease and Allied Disorders. 3rded. Berlin, Heidelberg, New York: Springer, 2008: 145-151
37. Langer B, Thomson S. Hirschsprung's disease; nine years' experience at the Hospital for Sick Children, Toronto. Can J Surg 1959; 2: 123-130
38. Lantieri F, Griseri P, Amiel J, Martucciello G, Ceccherini I, Romeo G, Lyonnet S. The molecular genetics of Hirschsprung disease. In: Holschneider A, Puri P (eds). Hirschsprung's Disease and Allied Disorders. 3rd ed. Berlin, Heidelberg, New York: Springer, 2008: 63-78
39. Lillie JG, Chrispin AR. Hirschsprung's disease in the neonate. Ann Radiol 1971; 14: 265-270
40. Martucciello G, Bicocchi MP, Dodero P, Lerone M, Silengo Cirillo M, Puliti A, Gimelli G, Romeo G, Jasonni V. Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10. Pediatr Surg 1992; 7: 308-310
41. Martucciello G, Brizzolara A, Favre A, Lomabardi L, Bocciardi R, Sanguinatti M, Pini Prato A. Neural crest neuroblast can colonize aganglionic and ganglionic gut in vivo. Eur J Ped Surg 2007; 17: 34-40
42. Martucciello G, Ceccherini I, Lerone M, Jasonni V. Pathogenesis of Hirschsprung's disease. J Pediatr Surg 2000; 35: 1017-1025
43. Martucciello G, Luinetti O, Romano P, Magrini U. Molecular biology, basic research and diagnosis of Hirschsprung's disease. Pathologe 2007; 28: 119-124
44. Martucciello G, Pini Prato A, Puri P, Holschneider AM, Meier-Ruge W, Jasonni V, Tovar JA, Grosfeld JL. Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: a report from the fourth international symposium on Hirschsprung's disease and related neurocristopathies. J Pediatr Surg 2005; 40: 1527-1531
45. Martucciello G, Tam P. RET protein in human fetal development and in Hirschsprung disease. In: Holschneider A, Puri P (eds). Hirschsprung's Disease and Allied Disorders. 2nd ed. Amsterdam: Harwood, 2000: 81-88
46. Meier-Ruge WA. Das Megacolon, seine Diagnose und Pathophysiologie. Virchows Arch Abt A 1968; 344: 67-85
47. Meier-Ruge WA, Bruder E. Pathology of chronic constipation in pediatric and adult coloproctology. Karger AG, Basel (Switzerland): Pathobiology 2005; 72: 1-106
48. Meier-Ruge WA, Bruder E. The morphological characteristics of aplastic and atrophic desmosis of the intestine. Pathologe 2007; 28: 149-154
49. Meier-Ruge W, Lutterbeck PM, Herzog B, Merger R, Moser R, Schärli A. Acetylcholinesterase activity in suction biopsies of the rectum in the diagnosis of Hirschsprung's disease. J Pediatr Surg 1972; 7: 11-17
50. Meijers JH, Van der Sanden MP, Tibboel D et al. Colonization characteristics of enteric neural crest cells: embryological aspects of Hirschsprung's disease. J Pediatr Surg 1992; 27: 811-814
51. Mulligan LM, Eng C, Attie T, Lyonnet S, Marsh DJ, Hyland VJ, Robinson BG, Frilling A, Verellen-Dumoulin C, Safar A. Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet 1994; 3: 2163-2167
52. Mulligan LM, Ponder BA. Genetic basis of endocrine disease: multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 1995; 80: 1989-1995
53. Murphy F, Menezes M, Puri P. Enterocolitis complicating Hirschsprung's disease. In: Holschneider A, Puri P (eds). Hirschsprung's Disease and Allied Disorders. 3rd ed. Berlin, Heidelberg, New York: Springer, 2008: 133-143
54. Nachlas MM, Tsou KC, Souza E, Chery CS. Cytochemical demonstration of succinic dehydrogenase by the use of a new p-nitrophenyl substituted ditetrazole. J Histochem Cytochem 1957; 5: 420-436
55. Nixon H. Hirschsprung's disease in the newborn. In: Holschneider A (ed). Hirschsprung's Disease. 1st ed. Stuttgart: Thieme Stratton, 1982: 103-113
56. Noblett HR. A rectal suction biopsy tube for use in the diagnosis of Hirschsprung's disease. J Pediatr Surg 1969; 4: 406-409
57. Pini Prato A, Martucciello G, Jasonni V. Solo-RBT: a new instrument for rectal suction biopsies in the diagnosis of Hirschsprung's disease. J Pediatr Surg 2001; 36: 1364-1366
58. Pini-Prato A, Martucciello G, Jasonni V. Rectal suction biopsy in the diagnosis of intestinal dysganglionoses: 5-year experience with Solo-RBT in 389 patients. J Pediatr Surg 2006; 41: 1043-1048
59. Puri P, Lake BD, Nixon HH, Mishalany H, Claireaux AE. Neuronal colonic dysplasia: an unusual association of Hirschsprung's disease. J Pediatr Surg 1977; 12: 681-685
60. Puri P, Montedonico S. Hirschsprung's disease: clinical features. In: Holschneider A, Puri P (eds). Hirschsprung's Disease and Allied Disorders. 3rd ed. Berlin, Heidelberg, New York: Springer, 2008: 106-113
61. Ratcliffe EM, deSa DJ, Dixon MF, Stead RH. Choline acetyltransferase (ChAT) immunoreactivity in paraffin sections of normal and diseased intestines. J Histochem Cytochem 1998; 46: 1223-1231
62. Rolle U, Puri P. Immunohistochemical studies. In: Holschneider A, Puri P (eds). Hirschsprung's Disease and Allied Disorders. 3rd ed. Berlin, Heidelberg, New York: Springer, 2008: 207-220
63. Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kääriäinen H, Martuccuielo G. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 1994; 367: 377-378
64. Schärli AF. Intestinal neuronal dysplasia. Pediatr Surg Int 1992; 7: 2-7
65. Schärli AF, Meier-Ruge W. Localized and disseminated forms of neuronal intestinal dysplasia mimicking Hirschsprung's disease. J Pediatr Surg 1981; 16: 164-170
66. Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi R, Pasini B, Ceccherini I, Lerone M, Kristoffersson U, Larsson LT, Casasa JM, Cass DT, Abramowicz MJ, Vanderwinden JM, Kravcenkiene I, Baric I, Silengo M, Martucciello G, Romeo G. Frequency of RET mutations in long- and short-segment Hirschsprung disease. Hum Mutat 1997; 9: 243-249
67. Sieber WK. Hirschsprung's disease. Curr Probl Surg 1978; 15: 1-76
68. Sukotnic I, Bernshteyn A, Mogilner JG. The basic biology of apoptosis and its implications for pediatric surgery. Eur J Ped Surg 2005; 15: 229-235
69. Swenson O, Fisher JH. Hirschsprung's disease in the newborn. Arch Surg 1959; 79: 987-993
70. Swenson O, Sherman JO, Fisher JH. Diagnosis of congenital megacolon: an analysis of 501 patients. J Pediatr Surg 1973; 8: 587-594
71. Tafazzoli K, Soost K, Wessel L, Wedel T. Topografic peculiarities of the submucous plexus in the human anorectum - consequences for histopathologic evaluation of rectal biopsies. Eur J Pediatr Surg 2005; 15: 159-163
72. Taguchi T, Suita S, Masumoto K, Nagasaki A. An abnormal distribution of C-kit positive cells in the normoganglionic segment can predict a poor clinical outcome in patients with Hirschsprung's disease. Eur J Pediatr Surg 2005; 15: 153-158
73. Tam PK, Gould SJ, Martucciello G, Biddolph S, Takahashi M, Jasonni V. Ret protein in the human fetal rectum. J Pediatr Surg 1996; 31: 568-571
74. Tobon F, Schuster MM. Megacolon: special diagnostic and therapeutic features. Johns Hopkins Med J 1974; 135: 91-105
75. Werbeloff L, Novis B, Bank S, Marks IN. Radiology of acute toxic mega-colon, S Afr Med J 1974; 48: 912-914
76. Yamataka A, Ohshiro K, Kobayashi H, Fujiwara T, Sunagawa M, Miyano T. Intestinal pacemaker C-KIT+ cells and synapses in allied Hirschsprung's disorders. J Pediatr Surg 1997; 32: 1069-1074
77. Zuelzer WW, Wilson JL. Functional intestinal obstruction on a congenital neurogenic basis in infancy. Am J Dis Childh 1948; 75: 40-64