Abstract

RAMOS DIAZ, Nélida et al. Neurofibromatosis without neurofibromas. Case report with a mediastinal tumor as the first sign of the disease. Rev Cubana Cir [online]. 2017, vol.56, n.3, pp. 1-7. ISSN 1561-2945.

A patient with a family history of Neurofibromatosis type I was presented. The patient referred symptoms and signs suggestive of that disease and complaint of left paravertebral chest pain. Imaging investigations were done and a posterior mediastinal tumor was diagnosed. It is important to highlight the presence of characteristics spot of neurofibromatosis localized only in one dermatome without neurofibromas in any other part of the body. The patient underwent a surgical intervention and a left thoracotomy was done, a large posterior mediastinal tumor was found and totally resected. The histology confirmed a neurofibroma. The postoperative evolution was satisfactory. The singularities of this patient were discussed, especially diagnosis criteria for neurofibromatosis type I, and the lack of peripheral neurofibromas until that moment. The possibility for a segmental neurofibromatosis also was considered. We pointed out about the necessity to remove any neoplastic lesion in the background of this genetic syndrome due to the high frequency of malignancies associated with neurofibromatosis, and also related with the malignant degeneration these tumors can develop.

Keywords : neurofibromatosis; Von Recklinghausen disease; neurofibroma; posterior mediastinum; neurogenic tumors; segmental neurofibromatosis.

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