Von Recklinghausen’s Neurofibromatosis

Introduction Neurofibromatosis type 1 (NF1) is an disorder characterised by various phenotypic features like hyperpigmented spots, neurofibromas, Lisch nodules, skeletal abnormalities and tendency to develop neoplasms. Case presentation We present the case of a 12-year-old patient referred by his pediatrician for intermittent dysphagia and a sensation of food attachment, in whom several café-au-lait spots on the body had been found, and a case of type 1 neurofibromatosis in the patient's siblings. The decision was to closely follow-up the patient, the progression of his symptoms and the size of the cervical neurofibroma. The patient's current follow-up has been two years, with a minimal increase in the frequency of episodes of dysphagia, and with Ct-scan performed every year. No major growth of the cervical mass was noted. Discussion Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterised by various phenotypic features like hyperpigmented spots, neurofibromas, Lisch nodules, skeletal abnormalities and tendency to develop neoplasms. Conclusion The treatment is not codified and abstention therapeutic may be a wise decision.

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Neurofibromatosis:

Seymour-Dempsey¹,

Andrassy²

2002

Journal of the American College of Surgeons

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Von Recklinghausen’s Neurofibromatosis

Cited by 4 publications

References 22 publications

Cervical neurofibromas in children with NF-1

Cervical neurofibromas in children with NF-1

Intermittent dysphagia revealing a lateropharyngeal neurofibroma in a child: Case report: A case report

Neurofibromatosis:

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