r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-7947-2025-30-4-44-50r-n-j-729Research ArticleИССЛЕДОВАНИЯ И КЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL RESEARCHES AND CASE REPORTSПантотенат киназа-ассоциированная нейродегенерацияPantothenate kinase-associated neurodegenerationhttps://orcid.org/0000-0001-8469-1635НовиковаЛ. Б.NovikovaL. B.

Уфа, Россия

Ufa, Russia

novicova@inbox.ruАкопянА. П.AkopyanA. P.

Уфа, Россия

Ufa, Russia

ano-akopian@yandex.ruhttps://orcid.org/0000-0002-8552-6233ЗюльцлеК. М.ZiultsleK. M.

Уфа, Россия

Ufa, Russia

sharapovakarina.2020@gmail.comБашкирский государственный медицинский университетРоссияBashkir State Medical UniversityRussian Federation2025041020253044450Copyright © Новикова Л.Б., Акопян А.П., Зюльцле К.М., 20252025Новикова Л.Б., Акопян А.П., Зюльцле К.М.Novikova L.B., Akopyan A.P., Ziultsle K.M.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.r-n-j.com/jour/article/view/729

Представлено описание клинического случая атипичной поздней формы, пантотенаткиназа-ассоциированной нейродегенерации (ПКАН) в терминальной стадии с дебютом на четвертом десятилетии жизни и быстропрогрессирующим течением. Наиболее характерными признаками заболевания у данной пациентки были синдром паркинсонизма, пирамидная симптоматика, различные гиперкинезы, снижение когнитивных функций, депрессия. При обосновании диагноза опирались на характерную клиническую картину и типичные МРТ — признаки в виде симптома «глаза тигра». В связи с отсутствием в настоящее время эффективных методов лечения больная получала симптоматическое лечение.

The article presents a description of a clinical case of atypical late form of pantothenate kinase-associated neurodegeneration (PKAN) in the terminal stage with debut in the fourth decade of life and rapidly progressive course. The most characteristic signs of the disease in this patient were parkinsonism syndrome, pyramidal symptoms, various hyperkinesis, decreased cognitive functions, depression. The diagnosis was based on the characteristic clinical picture and typical MRI signs in the form of the “tiger eye” symptom. Due to the lack of eff ective treatment methods at present, the patient received symptomatic treatment.

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The authors declare that there are no conflicts of interest present.