Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Gastric neurofibroma in von Recklinghausen disease : a cause of upper gastrointestinal bleeding

Von Recklinghausen disease병 환아에서 상부위장관 출혈로 발현한 위의 신경섬유종 1례

  • Kwon, Bo Sang (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Shim, Jeong Ok (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Seo, Jeong Kee (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Yang, Hye Ran (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Ko, Jae Sung (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Jung, Seong Eun (Department of Surgery, Seoul National University College of Medicine) ;
  • Kim, Woo Sun (Department of Radiology, Seoul National University College of Medicine) ;
  • Kang, Gyeong Hoon (Department of Pathology, Seoul National University College of Medicine)
  • 권보상 (서울대학교 의과대학 소아과학교실) ;
  • 심정옥 (서울대학교 의과대학 소아과학교실) ;
  • 서정기 (서울대학교 의과대학 소아과학교실) ;
  • 양혜란 (서울대학교 의과대학 소아과학교실) ;
  • 고재성 (서울대학교 의과대학 소아과학교실) ;
  • 정성은 (서울대학교 의과대학 외과학교실) ;
  • 김우선 (서울대학교 의과대학 진단방사선과학교실) ;
  • 강경훈 (서울대학교 의과대학 병리학교실)
  • Received : 2005.09.01
  • Accepted : 2005.10.18
  • Published : 2006.02.15
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Abstract

Neurofibromatosis type 1 (von Recklinghausen disease, NF1) involves the central and peripheral nervous systems as well as the skin, bone, endocrine, gastrointestinal and vascular systems. The gastrointestinal neurofibroma associated with NF1 has been infrequently reported. We report our experience with a 15-year-old boy who had a gastric plexiform neurofibroma with upper gastrointestinal bleeding and underwent a tumorectomy because of massive upper gastrointestinal bleeding. We conclude that gastrointestinal bleeding and anemia in the setting of NF1 mandates complete endoscopic examination of the digestive tract to rule out neurofibromas. Surgical resection is the standard treatment.

위장관계의 신경섬유종의 발생빈도는 드물다고 알려져 있다. 저자들은 제1형 신경섬유종증의 15세 남자 환아에서 상부위장관 출혈로 발현한 위에 생기는 신경섬유종을 내시경 및 상부위장관 조영술을 통해 진단을 내리고, 수술적 제거를 시행하였던 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Keywords

References

  1. Friedman JM, Gutmann DH, MacCollin M, Riccardi VM. Neurofibromatosis : phenotype, natural history and pathogenesis. 3rd ed. Baltimore : Johns Hopkins University Press, 1999
  2. Huson SM, Harper PS, Compston DAS. Von Recklinghausen neurofibromatosis : a clinical and population study in Southest Wales. Brain 1988;111:1355-81 https://doi.org/10.1093/brain/111.6.1355
  3. Packer RJ, Gutmannn DH, Rubenstein A, Viskochil D, Zimmerman RA, Vezina G, et al. Plexiform neurofibromas in NF1; toward biologic-based therapy. Neurology 2002;58: 1461-70 https://doi.org/10.1212/WNL.58.10.1461
  4. Davis GB, Berk RN. Intestinal neurofibromas in von Recklinghausen's disease. Am J Gastroenterol 1973;60:410-4
  5. Devereux RB, Koblenz LW, Cipriano P, Gray GF. Gastrointestinal hemorrhage : an unusual manifestation of neurofibromatosis. Am J Med 1975;58:135-8 https://doi.org/10.1016/0002-9343(75)90544-6
  6. Frank DJ, Majid N, England D. Massive gastrointestinal beeding in a patient with von Recklinghausen's disease : case report. Milit Med 1981;146:438-9 https://doi.org/10.1093/milmed/146.6.438
  7. Hochberg FH, Dasilva AB, Galdabini J. Gastrointestinal involvement in von Recklinghausen's neurofibromatosis. Neurology 1974;24:1144-51 https://doi.org/10.1212/WNL.24.12.1144
  8. Korf BR. Plexiform neurofibromas. Am J Med Genet 1999; 89:31-7 https://doi.org/10.1002/(SICI)1096-8628(19990326)89:1<31::AID-AJMG7>3.0.CO;2-W
  9. Ruggieri M, Huson S. The clinical and diagnostic implications of mosaicism in the neurofibromatosis. Neurology 2001;56:1433-43 https://doi.org/10.1212/WNL.56.11.1433
  10. Woodruff JM, Lourea HP, Louis DN, Scheitauer BW. Neurofibroma. In : Kleihues P, Cavenee WK, eds. World Health Organization classification of tumours, pathology and genetics of tumors of the nervous system. Lyon : IARC Press, 2000:167-8 https://doi.org/10.1016/S0165-4608(99)00201-0
  11. Lawson FE, Latimer EO. Neurofibromatosis (von Recklinghausen's disease) and bleeding from the gastrointestinal tract. Int Surg 1971;55:243-9
  12. Hochberg FH, Dasilva AB, Galdabini J. Gastrointestinal involvement in von Recklinghausens' neurofibromatosis. Neurology 1974;24:1144-51 https://doi.org/10.1212/WNL.24.12.1144
  13. Warshauwer FN, Nelson RE. Neurofibroma of jejunum with perforation : a case report. Am Surg 1953;19:467-72
  14. Ghrist TD. Gastrointestinal involvement in neurofibromatosis. Arch Intern Med 1963;112:111-6
  15. Palmer ED. Stomach tumors. Medicine 1951;30:116-35
  16. Brasfield RD, Das Gupta TK. Von Recklinghausen's disease : a clinicopathologic study. Ann Surg 1972;175:86-104 https://doi.org/10.1097/00000658-197201000-00015
  17. Bruneton JN, Drouillard J, Roux P. Neurogenic tumors of the stomach. Fortschr Rontgenol 1983;139:192-8 https://doi.org/10.1055/s-2008-1055869
  18. Ransom HK, Kay EB. Neurogenic tumors of the stomach. Ann Surg 1940;112:700-41 https://doi.org/10.1097/00000658-194011240-00017