Abstract
Intestinal neuronal dysplasia (IND) is an intestinal motility disorder, which clinically resembles Hirschsprung's disease (HD). Adventitial fibromuscular dysplasia (AFMD) consists of proliferation of smooth muscle cells and collagen fibers in the adventitia of blood vessels. The purpose of this study was to investigate vascular abnormalities in large bowel biopsies from patients with isolated HD, IND associated with HD and isolated IND. Large bowel biopsies from patients presenting with isolated HD ( n =23), IND associated with HD ( n =11), isolated IND ( n =16) and normal bowel as controls ( n =6) were investigated using acetylcholinesterase (AChE) histochemistry, van Gieson staining and α-smooth muscle actin (α-SMA) immunohistochemistry. Increased AChE activity around submucosal vessels was found in 9/16 (56%) cases with isolated IND, 3/11 (27%) cases of IND associated with HD, 5/23 (21%) isolated HD cases and 0/6 controls. AFMD was found in 10/16 (62%) of the isolated IND cases, 4/11 (362) of the cases with IND associated with HD and 4/23 (17%) cases of HD without IND using van Gieson staining. None of the control specimens revealed AFMD. Increased α-SMA immunoreactivity filaments were demonstrated in the submucosal vessel wall in 9/16 (56%) of isolated IND and 2/11(18%) of IND associated with HD cases. Normal α-SMA immunoreactivity around submucosal vessels was seen in isolated HD and controls. Abnormal submucosal vasculature is a common histological finding in isolated IND and IND associated with HD and may be a useful additional diagnostic feature in these patients.
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Borchard F, Meier-Ruge W, Wiebecke Briner J, Müntefering H, Fodisch HF, Holschneider AM, Schmidt A, Enck P, Stolte M (1991) Innervationsstörungen des Dickdarmes—Klassifikation und Diagnostik. Pathologe 12:171–174
Bradbury P, Rae K (1996) Connective tissue and stains. In: Bancroft JD, Stevens A (eds) Theory and practice of histological techniques. Churchill Livingstone, Hong Kong, p 127
Cord-Udy CL, Smith VV, Ahmed S, Risdon RA, Milla P (1997) An evaluation of the role of suction rectal biopsy in the diagnosis of intestinal neuronal dysplasia. J Pediatr Gastroenterol Nutr 24:1–6
Costa M, Fava M, Seri M, Cusano R, Sancandi M, Forabosco P, Lerone M, Martucciello G, Romeo G, Ceccherini I (2000) Evaluation of the HOX11L1 gene as a candidate for congenital disorders of intestinal innervation. J Med Genet 37 (electronic letters)
Csury L, Pena A (1995) Intestinal neuronal dysplasia: myth or reality? Literature review. Pediatr Surg Int 10:441–446
Fadda B, Maier WA, Meier-Ruge W, Schärli A, Daum R (1983) Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis. Z Kinderchir 38:305–311
Fadda B, Pistor G, Meier-Ruge W (1987) Symptoms, diagnosis, and therapy of neuronal intestinal dysplasia masked by Hirschsprung's disease. Pediatr Surg Int 2:76–80
Hanker JS, Anderson WA, Bloom FE (1972) Osmiophilic polymer generation: catalysis by transition metal compounds in ultrastructural cytochemistry. Science 175:991–993
Harrison EG, McCormack LJ (1971) Pathological classification of renal arterial disease in renovascular hypertension. Mayo Clin Proc 46:161–167
Hatano M, Aoki T, Dezawa M, Yusa S, Iitsuka Y, Koseki H, Taniguchi M, Tokuhisa T (1997) A novel pathogenesis of megacolon in Ncx/Hox1 1L.1 deficient mice. J Clin Invest 100:795–801
Holschneider AM, Meier-Ruge W, Ure BM (1994) Hirschsprung's disease and allied disorders—a review. Eur J Pediatr Surg 4:260–266
Karnovsky MJ, Roots L (1965) A "direct-coloring" thiocholine method for cholinesterase. J Histochem Cytochem 12:219–221
Kobayashi H, Hirakawa H, Puri P (1995) What are the diagnostic criteria for intestinal neuronal dysplasia? Pediatr Surg Int 10:459–464
Lake BD, Puri P, Nixon HH, Claireaux AE (1978) Hirschsprung's disease. An appraisal of histochemically demonstrated acetylcholinesterase activity in suction rectal biopsy specimens as an aid to diagnosis. Arch Pathol Lab Med 102:244–247
Lake BD (1995) Intestinal neuronal dysplasia. Why does it only occur in parts of Europe? Virchows Arch 426:537–539
Lister J (1966) Abnormal arteries in Hirschsprung's disease. Arch Dis Child 41:149
Lumb PD, Moore L (1998) Are giant ganglia a reliable marker of intestinal neuronal dysplasia type B (IND B)? Virchows Arch 432:103–106
Meier-Ruge W (1971) Über ein Erkrankungsbild des Colon mit Hirschsprung-Symptomatik. Verh Dtsch Ges Pathol 55:506–510
Meier-Ruge W, Gambazzi F, Kaufeler RE, Schmid P, Schmidt CP (1994) The neuropathological diagnosis of neuronal intestinal dysplasia (NID B). Eur J Pediatr Surg 4:267–273
Meier-Ruge WA, Bronnimann PB, Gambazzi F, Schmid PC, Schmidt CP, Stoss F (1995) Histopathological criteria for intestinal neuronal dysplasia of the submucosal plexus (type B). Virchows Arch 426:549–556
Price RA, Vawter GF (1972) Arterial fibromuscular dysplasia in infancy and childhood. Arch Pathol 93:419–426
Puri P, Lake BD, Nixon HH, Mishalany H, Claireaux AE (1977) Neuronal colonic dysplasia: an unusual association of Hirschsprung's disease. J Pediatr Surg 12:681–685
Puri P, Wester T (1998) Intestinal neuronal dysplasia. Semin Pediatr Surg 7:181–186
Sacher P, Briner J, Hanimann B (1993) Is neuronal intestinal dysplasia (NID) a primary disease of a secondary phenomenon. Eur J Pediatr Surg 3:228–230
Schärli AF, Meier-Ruge W (1981) Localized and disseminated forms of neuronal intestinal dysplasia mimicking Hirschsprung's disease. J Pediatr Surg 16:164–170
Schofield DE, Yunis EJ (1992) What is intestinal neuronal dysplasia? Pathol Ann 27:249–262
Shirasawa S, Yunker AMR, Roth KA, Brown GA, Horning S, Korsmeyer SJ (1997) Enx (Hox1 1L1)-deficient mice develop myenteric neuronal hyperplasia and megacolon. Nature Med 3:646–650
Stanley JC, Gerwertz BL, Bove EL, Sottiurai V, Fry WJ (1975) Arterial fibroplasia. Histopathologic character and current etiologic concepts. Arch Surg 110:561–566
Taguchi T, Tanaka K, Ikeda K (1985) Fibromuscular dysplasia of arteries in Hirschsprung's disease. Gastroenterology 88:1099–1103
Taguchi T, Suita S, Hirata Y, Hirose R, Yamada T, Toyohara T (1994) Abnormally shaped arteries in the intestine of children with Hirschsprung's disease: etiological considerations relating to ischemic theory. J Pediatr Gastroenterol Nutr 18:200–204
Von Boyen GBT, Krammer HJ, Süss A, Dembowski C, Ehrenneich H, Wedel T (2002) Abnormalities of the enteric nervous system in heterozygous endothelin B receptor deficient (spotting lethal) rats resembling intestinal neuronal dysplasia. Gut 51:414–419
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Rolle, U., Piotrowska, A.P. & Puri, P. Abnormal vasculature in intestinal neuronal dysplasia. Ped Surgery Int 19, 345–348 (2003). https://doi.org/10.1007/s00383-003-1008-3
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DOI: https://doi.org/10.1007/s00383-003-1008-3