Pediatric Surgery International

, Volume 7, Issue 4, pp 308–310 | Cite as

Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10

  • G. Martucciello
  • M. P. Bicocchi
  • P. Dodero
  • M. Lerone
  • M. Silengo Cirillo
  • A. Puliti
  • G. Gimelli
  • G. Romeo
  • V. Jasonni
Case Report


We present the case of a patient with total colonic aganglionosis and small-bowel involvement (TCSA) associated with a 46, XX, del 10 (q11.21 q21.2) karyotype. Seromuscular biopsies were taken from the rectum, colon, cecum, and terminal ileum. The alpha-naphthylesterase technique was applied to demonstrate intestinal ganglia of the myenteric plexus. The patient did not have associated anomalies. The association of TCSA with 10 long-arm interstitial deletion has not been reported in the literature. Molecular studies in cases of TCSA might reveal whether chromosome 10 plays a role in the pathogenesis of the disease.

Key words

Total colonic aganglionosis Hirschsprung's disease Neurocristopathies Pathogenesis Chromosome 10 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Bolande RP (1974) The neurocristopathies. A unifying concept of disease arising in neural crest maldevelopment. Hum Pathol 5: 409–429Google Scholar
  2. 2.
    Bolande RP (1981) Neurofibromatosis, the quintessential neurocristopathy: pathogenetic concepts and relationships. In: Riccardi VM, Mulvihill JJ (eds) Neurofibromatosis von Recklinghausen disease. Advances in Neurology Raven, New York, pp 67–75Google Scholar
  3. 3.
    Chow CW, Chan WC, Yue CK (1977) Histochemical criteria for the diagnosis of Hirschsprung's disease in rectal suction biopsies by acetylcholinesterase activity. J Pediatr Surg 12: 675–680Google Scholar
  4. 4.
    Davies MRQ, Cywes S, Rode H (1981) The manometric evaluation of the rectosphincteric reflex in total colonic aganglionosis. J Pediatr Surg 16: 660–663Google Scholar
  5. 5.
    De Campo JF, Mayne V, Boldt DW, et al. (1984) Radiological findings in total aganglionosis coli. Pediatr Radiol 14: 205–209Google Scholar
  6. 6.
    Dodero P, Martucciello G (1988) Hirschsprung's disease: alphanaphthylesterase activity for enzyme-histochemical evaluation of the extent of the aganglionic segment during surgery. Pediatr Surg Int 4: 269–274Google Scholar
  7. 7.
    Elema JD, De Vries JA, Vos LJM (1973) Intensity and proximal extension of acetylcholinesterase activity in the mucosa of the rectosigmoid in Hirschsprung's disease. J Pediatr Surg 8: 361–367Google Scholar
  8. 8.
    Fadda B, Maier WA, Meier-Ruge W, Schärli A, Daum R (1983) Neuronale intestinale Dysplasie. Eine kritische 10-Jahres-Analyse klinischer und bioptischer Diagnostik. Z Kinderchir 38: 305–311Google Scholar
  9. 9.
    Fadda B, Pistor G, Meier-Ruge W, Hofmann- von Kap-herr S, Muntefering H, Espinoza R (1987) Symptoms, diagnosis, and therapy of neuronal intestinal dysplasia masked by Hirschsprung's disease. Pediatr Surg Int 2: 76–80Google Scholar
  10. 10.
    Farndon PA, Bianchi A (1983) Waardenburg's syndrome associated with total aganglionosis. Arch Dis Child 58: 932–933Google Scholar
  11. 11.
    Fondelli P, Martucciello G, Taccone A, Dodero P (1989) Quadro radiologico dell' aganglia totale del colon. Radiol Med (Torino) 77: 207–210Google Scholar
  12. 12.
    Gaisie G, Sang K, Young LV (1979) Coexistent neuroblastoma and Hirschsprung's disease — another manifestation of the neurocristopathy? Pediatr Radiol 8: 161–163Google Scholar
  13. 13.
    Hershlag A, Ariel I, Lernau OZ, Nissan S, Rosenman E (1984) Cytomegalic inclusion virus and Hirschsprung's disease. Z Kinderchir 39: 253–254Google Scholar
  14. 14.
    Ikeda K, Goto S (1986) Total colonic aganglionosis with or without small bowel involvement: an analysis of 137 patients. J Pediatr Surg 21: 319–322Google Scholar
  15. 15.
    Kaiser G, Bettex M (1982) Clinical generalities. Terminology and classification. In: Holschneider AM (ed) Hirschsprung's disease, Hippokrates, Stuttgart, Thieme-Stratton, New York, pp 43–53Google Scholar
  16. 16.
    Lindvall O, Bjorklund A (1974) The glyoxylic acid fluorescence histochemical method: a detailed account of the methodology for the visualization of central catecholamine neurons. Histochemistry 39: 97–127Google Scholar
  17. 17.
    Lukas Z, Ludvikovsky J (1983) Histochemical examination of rectal biopsies in the course of diagnosis and treatment of Hirschsprung's disease. Histochem J 15: 323–325Google Scholar
  18. 18.
    Martucciello G, Giorgini F, Sanfilippo F, Scarsi P, Dodero P (1986) Malattia di Hirschsprung: una nuova metodica istochimica nella diagnosi e nella valutazione intraoperatoria estemporanea dell' estensione del segmento agangliare. Gaslini 18: 29–39Google Scholar
  19. 19.
    Mathew CGP, Chin KS, Easton DF, Thorpe K, Carter C, Liou GI, Fong SL, Bridges CDB, Haak H, Nieuwenhuijzen Kruseman AC, Schifter S, Hansen HH, Telenius H, Telenius-Berg M, Ponder BAJ (1987) A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10. Nature 328: 527–528Google Scholar
  20. 20.
    Meier-Ruge W (1982) Morphological diagnosis: In: Holschneider AM (ed) Hirschsprung's disease. Hippokrates, Stuttgart, Thieme-Stratton, New York, pp 62–71Google Scholar
  21. 21.
    Schärli AF (1982) The pathophysiology of Hirschsprung's disease. In: Holschneider AM (ed) Hirschsprung's disease. Hippokrates, Stuttgart Thieme-Stratton, New York, pp 23–40Google Scholar
  22. 22.
    Schärli AF, Meier-Ruge W (1981) Localized and disseminated forms of neuronal intestinal dysplasia mimicking Hirschsprung's disease. J Pediatr Surg 16: 164–170Google Scholar
  23. 23.
    Shiller M, Levy P, Shawa RA, Abu-Dalu K, Gorenstein A, Katz S (1990) Familial Hirschsprung's disease — A report of 22 affected siblings in four families. J Pediatr Surg 25: 322–325Google Scholar
  24. 24.
    Simpson NE, Kidd KK, Goodfellow PJ, McDermid H, Myers S, Kidd JR, Jackson CE, Duncan AMV, Farrer LA, Brasch K, Castiglione C, Genel M, Gertner J, Greenberg CR, Gusella JF, Holden JJA, White BN (1987) Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage. Nature 328: 528–530Google Scholar
  25. 25.
    Shocket E, Teloh HA (1957) Aganglionic megacolon, pheochromocytoma, megaloureter, and neurofibroma: concurrence of several neural abnormalities. Am J Dis Child 94: 185–191Google Scholar

Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • G. Martucciello
    • 1
  • M. P. Bicocchi
    • 2
  • P. Dodero
    • 3
  • M. Lerone
    • 4
  • M. Silengo Cirillo
    • 4
  • A. Puliti
    • 4
  • G. Gimelli
    • 2
  • G. Romeo
    • 4
  • V. Jasonni
    • 1
  1. 1.Department of Pediatric SurgeryG. Gaslini InstituteGenoaItaly
  2. 2.Laboratory of Cytogenetic, Department of Molecular GeneticsG. Gaslini InstituteGenoaItaly
  3. 3.Surgical Emergency UnitG. Gaslini InstituteGenoaItaly
  4. 4.Department of Medical GeneticsG. Gaslini InstituteGenoaItaly

Personalised recommendations