A family case report of Neurofibromatosis

Wolder Daniel, Swat Adrian. A family case report of Neurofibromatosis. Journal of Education, Health and Sport. 2022;12(2):108-115. eISSN 2391-8306. DOI http://dx.doi.org/10.12775/JEHS.2022.12.02.012

https://apcz.umk.pl/JEHS/article/view/JEHS.2022.12.02.012

https://zenodo.org/record/6007985

The journal has had 40 points in Ministry of Education and Science of Poland parametric evaluation. Annex to the announcement of the Minister of Education and Science of December 21, 2021. No. 32343.

Has a Journal's Unique Identifier: 201159. Scientific disciplines assigned: Physical Culture Sciences (Field of Medical sciences and health sciences); Health Sciences (Field of Medical Sciences and Health Sciences).

Punkty Ministerialne z 2019 - aktualny rok 40 punktów. Załącznik do komunikatu Ministra Edukacji i Nauki z dnia 21 grudnia 2021 r. Lp. 32343. Posiada Unikatowy Identyfikator Czasopisma: 201159.

Przypisane dyscypliny naukowe:Nauki o kulturze fizycznej (Dziedzina nauk medycznych i nauk o zdrowiu); Nauki o zdrowiu (Dziedzina nauk medycznych i nauk o zdrowiu).

© The Authors 2022;

This article is published with open access at Licensee Open Journal Systems of Nicolaus Copernicus University in Torun, Poland

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The authors declare that there is no conflict of interests regarding the publication of this paper.

Received: 26.01.2022. Revised: 26.01.2022. Accepted: 08.02.2022.

A family case report of Neurofibromatosis

Daniel Wolder

Department of Gynaecology and Obstetrics, Provincial Integrated Hospital in Kielce

https://orcid.org/0000-0001-6418-8725

Adrian Swat

Department of Gynaecology and Obstetrics, Provincial Integrated Hospital in Kielce

https://orcid.org/0000-0001-8817-2621

Abstract

Neurofibromatosis is a genetic disease inherited in an autosomal, dominant manner. The course of von Recklinghausen’s disease varies from patient to patient. Most cases are mild and uncomplicated. The diagnosis of NF1 is based on the criteria of the National Institutes of Health (NIH). Type 2 neurofibromatosis is inherited, in most cases autosomal dominantly. The abnormal allele can be inherited from either parent, with the risk of passing the gene on to the offspring from the parent, being 50%. This article describes the familial form of neurofibromatosis. In the case in question, all three sisters were found to be mutated in the NF1 gene by genetic testing. In the same family, the clinical manifestation of the disease may be different for sisters and children. Due to compliance with medical recommendations, the disease does not significantly affect the quality of life of the families affected.

Key words: neurofibromatosis, NF1, NF2, von Recklinghausen’s disease