Features of brain involvement in patients with type 1 neurofibromatosis in the Republic of Bashkortostan

Mustafin R.N.

doi:https://doi.org/10.17116/jnevro202512505177

Mustafin R.N.

Bashkir State Medical University

ORCID: 0000-0002-4091-382X

Features of brain involvement in patients with type 1 neurofibromatosis in the Republic of Bashkortostan

Authors:

Mustafin R.N.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(5): 77‑83

DOI: 10.17116/jnevro202512505177

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To cite this article:

Mustafin RN. Features of brain involvement in patients with type 1 neurofibromatosis in the Republic of Bashkortostan. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(5):77‑83. (In Russ.)
https://doi.org/10.17116/jnevro202512505177

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)

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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.

Keywords:

optic nerve gliomas

brain cysts

type 1 neurofibromatosis

psychological disorders

cognitive deficit

Authors:

Mustafin R.N.

Bashkir State Medical University

ORCID: 0000-0002-4091-382X

Received:

02.12.2024

Accepted:

11.03.2025

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References:

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