Giant Mediastinal Mass in A 3-year-old Boy, A Rare Presentation of Neurofibromatosis Type I
Iranian Journal of Child Neurology,
Vol. 15 No. 4 (2021),
1 October 2021
https://doi.org/10.22037/ijcn.v15i4.23846
Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease diagnosed with presentation of café-au-lait macules, Skinfold freckling, iris Lisch nodules, neurofibromas, osseous lesion and Optic gliomas. Mediastinal mass as first presentation of NF1 is very rare and its frequency is about 2.7%. here we present a rare case of NF1 in a 3-year-old boy admitted with respiratory distress and superior vena cava syndrome.
- Neurofibromatosis type 1
- Mediastinal mass
- Child
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References
- Feldkamp MM, Gutmann DH, Guha A. Neurofibromatosis type 1: piecing the puzzle together. Can J Neurol Sci 1998; 25:181.
-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.
-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
-Evans DG, Howard E, Giblin C, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A 2010; 152A:327.
- DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 2000; 105:608.
- K. Saitoh, M. Nasu, and R. Kamiyama, “Solitary neurofibroma of the esophagus,” Acta Pathologica Japonica, vol. 35, no. 2, pp. 527–531, 1985
- H. C. Meredith and J. F. Valicenti, “Case report. Solitary neurofibroma of the trachea,” British Journal of Radiology, vol.51, no. 603, pp. 218–219, 1978.
-R. E. Ferner and D. H. Gutmann, “International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis,” Cancer Research, vol. 62, no. 5, pp. 1573–1577, 2002.
- Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1. Genet Med 2010; 12:1–11
-Salamon J; Mautner VF; Adam G; Derlin T. Multimodal Imaging in Neurofibromatosis Type 1-associated Nerve Sheath Tumors.Rofo. 2015; 187(12):1084-92 (ISSN: 1438-9010)
-Lott IT, Richardson EP Jr. Neuropathological findings and the biology of neurofibromatosis. Adv Neurol 1981; 29:23.
- Kluwe L, Siebert R, Gesk S, Friedrich RE, Tinschert S, Kehrer-Sawatzki H, et al. Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 2004; 23:111–6.
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