A Case of Radiologically Suspected Mesenteric Plexiform Neurofibromas in a Patient with Type I Neurofibromatosis
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Neurofibromatosis type I(NF-1) is an autosomal dominant neurocutaneous syndrome with the genetic abnormality localized to the long arm of chromosome 171). It is one of the most common genetic disorders, with a prevalence of approximately 1 in 3,500 to 4,000 individuals2). NF-1 has a predilection for males, with a male-female ratio of 3:12). The diagnosis can be made if two or more of the followings are present: (1) six or more café-au-lait spots, (2) two or more neurofibromas, (3) one or more plexiform neurofibromas (PNF), (4) freckling in the axilla or inguinal region, (5) optic glioma, (6) two or more Lisch nodules, (7) a distinctive osseous lesion, or (8) a first-degree relative with NF-13). NF-1 has variable manifestations and can involve diverse systems: the central and peripheral nervous system; the skin; the bone; the endocrine system; gastrointestinal system; and the vascular system4). Gastrointestinal involvement occurs in 10-25 % of patients with NF-1 and includes solitary or multiple neurofibromas, leiomyomas and rarely PNF5,6). However, for children with NF-1, gastrointestinal involvement is rare, especially the presence of a PNF5). The most common site of a mesenteric PNF, according to the report by Imamoglu et al., is the terminal ileum, followed by the jejunum and colon5). We report a rare case of radiologically suspected mesenteric PNF, along the celiac axis, in an 8-year-old boy.
Abstract
Neurofibromatosis type I(NF-1) is an autosomal dominant neurocutaneous syndrome with the genetic abnormality localized to the long arm of chromosome 171). It is one of the most common genetic disorders, with a prevalence of approximately 1 in 3,500 to 4,000 individuals2). NF-1 has a predilection for males, with a male-female ratio of 3:12). The diagnosis can be made if two or more of the followings are present: (1) six or more café-au-lait spots, (2) two or more neurofibromas, (3) one or more plexiform neurofibromas (PNF), (4) freckling in the axilla or inguinal region, (5) optic glioma, (6) two or more Lisch nodules, (7) a distinctive osseous lesion, or (8) a first-degree relative with NF-13). NF-1 has variable manifestations and can involve diverse systems: the central and peripheral nervous system; the skin; the bone; the endocrine system; gastrointestinal system; and the vascular system4). Gastrointestinal involvement occurs in 10-25 % of patients with NF-1 and includes solitary or multiple neurofibromas, leiomyomas and rarely PNF5,6). However, for children with NF-1, gastrointestinal involvement is rare, especially the presence of a PNF5). The most common site of a mesenteric PNF, according to the report by Imamoglu et al., is the terminal ileum, followed by the jejunum and colon5). We report a rare case of radiologically suspected mesenteric PNF, along the celiac axis, in an 8-year-old boy.
참고문헌 (17)
- Fenton LZ., "Diffuse, retroperitoneal mesenteric and intrahepatic periportal plexiform neurofibroma in a 5-year-old boy", Pediatr Radiol, 31, pp.637~639 (2001)
- Wilkinson LM., "Plexiform neurofibroma of the bladder", Radiographics, 24, pp.S237~s242 (2004)
- Mulvihill JJ., "NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update", Ann Intern Med, 113, pp.39~52 (1990)
- Huson SM., "Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales", Brain, 111, pp.1355~1381 (1988)
- Imamoglu M., "Intestinal mesenteric involvement with plexiform neurofibroma in neurofibromatosis type 1", Pediatr Int, 48, pp.337~339 (2006)
- Hochberg FH., "Gastrointestinal involvement in von Recklinhausens neurofibromatosis", Neurology, 24, pp.1144~1151 (1974)
- Bass JC., "Retroperitoneal plexiform neurofibromas: CT findings", AJR Am J Roentgenol, 163, pp.617~620 (1994)
- Bakker JR., "Gastrointestinal neurofibromatosis: an unusual cause of gastric outlet obstruction", Am Surg, 71, pp.100~105 (2005)
- Korf BR., "Plexiform neurofibromas", Am J Med Genet, 89, pp.31~37 (1999)
- Packer RJ., "Plexiform neurofibromas in NF1: toward biologic- based therapy", Neurology, 58, pp.1461~1470 (2002)
- Filler AG., "Application of magnetic resonance neurography in the evaluation of patients with peripheral nerve pathology", J Neurosurg, 85, pp.299~309 (1996)
- Rodriquez E., "Diffuse intrahepatic periportal plexiform neurofibroma", Eur J Radiol, 16, pp.151~153 (1993)
- Kumar AJ., "Computed tomography of extracranial nerve sheath tumors with pathologic correlation", J Comput Assist Tomogr, 7, pp.857~865 (1983)
- Rastogi R., "Intra-abdominal manifestations of von Recklinghausens neurofibromatosis", Saudi J Gastoentrol, 14, pp.80~82 (2008)
- Leslie MD., "Malignant transformation of neurofibromas at multiple sites in a case of neurofibromatosis", Postgrad Med J, 63, pp.131~133 (1987)
- Needle MN., "Prognostic signs in the surgical management of plexiform neurofibroma: the childrens hospital of philadelphia experience, 1974-1994", J Pediatr, 131, pp.678~682 (1997)
- Gupta A., "Phase I study of thalidomide for the treatment of plexiform neurofibroma in neurofibromatosis 1", Neurology, 60, pp.130~132 (2003)