Neurofibromatosis type i in the precarpathian region. the case of giant neurofibroma of a child
Abstract
Aim of research. To analyse phenotypic and genealogic data of patients with neurofibromatosis. To calculate the disease population frequency and de novo mutation rate in the Precarpathian region.
Materials and methods. The study has analysed the cases of NF in the period from 1998 to 2018 registered in the Regional Centre of Clinical Genetics, medical records of certain hospital patients who received medical treatment in onco9hematology unit. Methods applied in the study: clinical genealogic; general clinical; radiological, including computer or magnetic resonance tomography; statistical.
Results. During the period under study, 75 families were diagnosed with neurofibromatosis. The specific gravity and de novo mutation rate in etiology of the disease are rather high: 65% and 7.59х10-5 respectively. In significant percentage of cases (38%) the diagnosis was determined quite early, before the age of seven, when a full clinical picture is unavailable. The research describes the case of a giant neurofibromatosis of shoulder and neck spreading into pleural cavity and interpleural space in combination with hamartoma sites in the brain of a young child.
Conclusions. Neurofibromatosis is the most widely spread phacomatosis in the Precarpathian region. In most cases the disease occurs as a result of de novo mutation (65%), which can be used to determine the mutagenic environmental influence.
The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee (LEC) of institution. The informed consent of the patient was obtained for conducting the studies.
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