{"title":"[Features of brain involvement in patients with type 1 neurofibromatosis in the Republic of Bashkortostan].","authors":"R N Mustafin","doi":"10.17116/jnevro202512505177","DOIUrl":null,"url":null,"abstract":"<p><strong>The objective of the study is: </strong>To determine the features of brain damage in patients with type 1 neurofibromatosis (NF1) in the Republic of Bashkortostan (RB).</p><p><strong>Material and methods: </strong>The clinical presentation of NF1 in patients in the Republic of Bashkortostan with brain damage, as well as the accessibility of specialized care were analyzed. The mean age was 30.6 years (8 months to 85 years). The ratio of females to males was 1:1. The ethnic composition of patients corresponds to the general population in the republic.</p><p><strong>Results: </strong>The prevalence of NF1 in the republic was 13.5 per 100.000 population. Cognitive deficits have been identified in 15% of NF1 patients (of which 75% were severe); 6% have optic gliomas, 5% have brain cysts, 4.23% have hydrocephalus, 3.86% have brain tumors, and 3.7% have epilepsy.</p><p><strong>Discussion: </strong>Learning difficulties and optic nerve gliomas were significantly rarer compared to the worldwide data. Possible reasons for the lower detectability of cognitive deficits may be doctors' insufficient alertness, a shortage of psychologists and neurologists, and social factors. There is no data on the psychological disorders in NF1 patients in the republic; however, a high prevalence of brain cysts was revealed. Optic nerve gliomas, epilepsy, and short stature in patients with cognitive deficits are statistically significantly more common. The analysis of the availability of specialized care showed a sufficient number of geneticists in the country and difficulties in timely using instrumental research methods (MRI) and consultations with neurologists, ophthalmologists, psychologists, and psychotherapists.</p><p><strong>Conclusion: </strong>The results indicate the need for accessible brain MRI and consultations with neurologists, psychologists, and psychotherapists for all NF1 patients in the republic to detect brain lesions and psychological disorders in a timely manner. The detection of brain cysts in 5% of patients may be specific to the NF1 region.</p>","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"125 5","pages":"77-83"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17116/jnevro202512505177","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
The objective of the study is: To determine the features of brain damage in patients with type 1 neurofibromatosis (NF1) in the Republic of Bashkortostan (RB).
Material and methods: The clinical presentation of NF1 in patients in the Republic of Bashkortostan with brain damage, as well as the accessibility of specialized care were analyzed. The mean age was 30.6 years (8 months to 85 years). The ratio of females to males was 1:1. The ethnic composition of patients corresponds to the general population in the republic.
Results: The prevalence of NF1 in the republic was 13.5 per 100.000 population. Cognitive deficits have been identified in 15% of NF1 patients (of which 75% were severe); 6% have optic gliomas, 5% have brain cysts, 4.23% have hydrocephalus, 3.86% have brain tumors, and 3.7% have epilepsy.
Discussion: Learning difficulties and optic nerve gliomas were significantly rarer compared to the worldwide data. Possible reasons for the lower detectability of cognitive deficits may be doctors' insufficient alertness, a shortage of psychologists and neurologists, and social factors. There is no data on the psychological disorders in NF1 patients in the republic; however, a high prevalence of brain cysts was revealed. Optic nerve gliomas, epilepsy, and short stature in patients with cognitive deficits are statistically significantly more common. The analysis of the availability of specialized care showed a sufficient number of geneticists in the country and difficulties in timely using instrumental research methods (MRI) and consultations with neurologists, ophthalmologists, psychologists, and psychotherapists.
Conclusion: The results indicate the need for accessible brain MRI and consultations with neurologists, psychologists, and psychotherapists for all NF1 patients in the republic to detect brain lesions and psychological disorders in a timely manner. The detection of brain cysts in 5% of patients may be specific to the NF1 region.
期刊介绍：
Одно из старейших медицинских изданий России, основанное в 1901 году. Создание журнала связано с именами выдающихся деятелей отечественной медицины, вошедших в историю мировой психиатрии и неврологии, – С.С. Корсакова и А.Я. Кожевникова.
Широкий диапазон предлагаемых журналом материалов и разнообразие форм их представления привлекают внимание научных работников и врачей, опытных и начинающих медиков, причем не только неврологов и психиатров, но и специалистов смежных областей медицины.
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