Giant Mediastinal Neurofibroma in a Child with Neurofibromatosis Type I
- 1 Department of Gastroenterological Surgery I, Hokkaido University Graduate School of Medicine, Sapporo, Japan
- 2 Department of Gastroenterological Surgery I, Hokkaido University Graduate School of Medicine, Sapporo, Japan
- 3 Department of Gastroenterological Surgery I, Hokkaido University Graduate School of Medicine, Sapporo, Japan
- 4 Department of Gastroenterological Surgery I, Hokkaido University Graduate School of Medicine, Sapporo, Japan
- 5 Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan
- 6 Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan
- 7 Department of Surgical Pathology, Hokkaido University Hospital, Sapporo, Japan
- 8 Department of Gastroenterological Surgery I, Hokkaido University Graduate School of Medicine, Sapporo, Japan
Abstract
Aim: There are a variety of malignant tumors related to neurofibromatosis type 1 (NF1). This report describes a rare pediatric NF1 case with an unresectable giant mediastinal tumor. Case: A 6-year-old girl with wheezing was admitted to our institution for the further evaluation of a right mediastinal mass on plain chest radiography. On examination, there were multiple café au lait spots mainly on the trunk, and a well-defined, immobile, painless mass was palpable on her neck. The mediastinal lesion was detected as nonuniform mass surrounding the aortic arch, pulmonary artery, and right main bronchus on the contrast-enhanced CT and MRI. Open biopsy was useful to rule out malignancy and revealed neurofibroma, and contributed to follow up and treatment. Discussion: Open biopsy was useful to rule out malignancy, such as malignant peripheral nerve sheath tumor, revealed neurofibroma, and also contributed to follow up and treatment. The authors report successful management by open biopsy and discuss several clinical points regarding mediastinal neurofibroma for NF1.
- R. D. Brasfield and T. K. das von Gupta, “Recklinghausen’s Disease: A Clinicopathological Study,” Annals of Surgery, Vol. 175, No. 1, 1972, pp. 86-104. doi:10.1097/00000658-197201000-00015
- M. Lammert, J. M. Friedman, L. Kluwe and V. F. Mautner, “Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment,” Archives of Dermatology, Vol. 141, No. 1, 2005, pp. 71-74. doi:10.1001/archderm.141.1.71
- L. Valeyrie-Allanore, N. Ismaili, S. Bastuji-Garin, J. Zeller, J. Wechsler, J. Revuz and P. Wolkenstein, “Symptoms Associated with Malignancy of Peripheral Nerve Sheath Tumours: A Retrospective Study of 69 Patients with Neurofibromatosis 1,” British Journal of Dermatology, Vol. 153, No. 1, 2005, pp. 79-82. doi:10.1111/j.1365-2133.2005.06558.x
- M. M. Feldkamp, D. H. Gutmann and A. Guha, “Neurofibromatosis Type 1: Piecing the Puzzle Together,” Canadian Journal of Neurological Sciences, Vol. 25, No. 3, 1998, pp. 181-191.
- J. M. McGaughran, D. I. Harris, D. Donnai, D. Teare, R. MacLeoa, R. Westerbeek, H. Kingston, M. Super, R. Harris and D. Q. Evans, “A Clinical Study of Type 1 Neurofibromatosis in North West England,” Journal of Medical Genetics, Vol. 36, No. 3, 1999, pp. 197-203.
- S. A. Rasmussen, Q. Yang and J. M. Friedman, “Mortality in Neurofibromatosis 1: An Analysis Using U.S. Death Certificates,” The American Journal of Human Genetics, Vol. 68, No. 5, 2001, pp. 1110-1111. doi:10.1086/320121
- M. Zoller, B. Rembeck, H. O. Akesson and L. Angervall, “Life Expectancy, Mortality and Prognostic Factors in Neurofibromatosis Type 1: A Twelve-Year Follow-Up of an Epidemiological Study in Goteborg, Sweden,” Acta Dermato-Venereologica, Vol. 75, No. 2, 1995, pp. 136-140.
- R. A. Lewis, L. P. Gerson, K. A. Axelson, V. M. Riccardi and R. P. von Whitford, “Recklinghausen Neurofibromatosis. II: Incidence of Optic Gliomata,” Ophthalmology, Vol. 91, No. 8, 1984, pp. 929-935.
- A. Creange, J. Zeller, S. Rostaing-Rigattieri, P. Brugières, J. D. Degos, J. Revuz and P. Wolkenstein, “Neurological Complications of Neurofibromatosis Type 1 in Adulthood,” Brain, Vol. 122, No. 3, 1999; pp. 473-481. doi:10.1093/brain/122.3.473
- J. S. Guillamo, A. Creange, C. Kalifa, J. Grill, D. Rodriquez, F. Doz, S. Barbarot, M. Zerah, M. Sanson, S. Bastuji-Garia and P. Wolkenstein, “Prognostic Factors of CNS Tumours in Neurofibromatosis 1 (NF1): A Retrospective Study of 104 Patients,” Brain, Vol. 126, No. 1, 2003, pp. 152-160.