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NEUROFIBROMATOSIS TYPE 1. DIFFERENCES OF THE CLINICAL PICTURE OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH DIFFERENT HERITAGE VARIENTS

Journal: Pediatric Bulletin of the South Ural (Vol.1, No. 1)

Publication Date:

Authors : ;

Page : 92-100

Keywords : phacomatosis; neurofibromatosis; clinical criteria; comparative characteristics; targeted therapy;

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Abstract

Two clinical cases of patients of different ages (6 years and 14 years) with an established genetically confirmed diagnosis of type 1 neurofibromatosis are presented. A young patient is currently diagnosed with ganglioneuroblastoma, at the same time; there is no detailed specific clinical picture of neurofibromatosis. In this case, the focus of therapy was associated with the treatment of ganglioneuroblastoma (surgery, radiation therapy). The adolescent patient has a severe course of the disease with multiple neurofibromas, pathology of the skeletal system, and other indications for targeted therapy. Targeted therapy with the MEK inhibitor trametinib is well tolerated by the patient and helps to improve his well-being. Thus, the use of targeted therapy in patients with type 1 neurofibromatosis with clinical manifestations in the form of benign neurofibromas is likely to open a new era in the treatment of type 1 neurofibromatosis.

Last modified: 2021-07-08 07:02:33