nnpNeurology, Neuropsychiatry, PsychosomaticsНеврология, нейропсихиатрия, психосоматика2074-27112310-1342"IMA-Press", LLC10.14412/2074-2711-2024-4-68-75nnp-2335Research ArticleCLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯGerstmann–Sträussler–Scheinker syndrome with phenotypic change in dynamics and misdiagnosis of a motor neurone disease (clinical case)Синдром Герстманна–Штраусслера–Шейнкера с трансформацией фенотипа в динамике и ошибочной диагностикой болезни двигательного нейрона (клиническое наблюдение)https://orcid.org/0009-0002-1334-9730ШевчукД. В.ShevchukD. V.

125367; Волоколамское шоссе, 80; Москва

125367; 80, Volokolamskoe Shosse; Moscow

https://orcid.org/0000-0002-7924-3405ГришинаД. А.GrishinaD. A.

125367; Волоколамское шоссе, 80; Москва

125367; 80, Volokolamskoe Shosse; Moscow

https://orcid.org/0000-0003-3179-7668НужныйЕ. П.NuzhnyE. P.

125367; Волоколамское шоссе, 80; Москва

125367; 80, Volokolamskoe Shosse; Moscow

https://orcid.org/0000-0002-1072-9968ЗахароваМ. Н.ZakharovaM. N.

Мария Николаевна Захарова

125367; Волоколамское шоссе, 80; Москва

Maria Nikolaevna Zakharova

125367; 80, Volokolamskoe Shosse; Moscow

zakharova@neurology.ruФГБНУ «Научный центр неврологии»РоссияResearch Center of NeurologyRussian Federation2024210820241646875Copyright © Shevchuk D.V., Grishina D.A., Nuzhny E.P., Zakharova M.N., 20242024Шевчук Д.В., Гришина Д.А., Нужный Е.П., Захарова М.Н.Shevchuk D.V., Grishina D.A., Nuzhny E.P., Zakharova M.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://nnp.ima-press.net/nnp/article/view/2335

   This article presents a clinical case of Gerstmann–Sträussler–Scheinker syndrome (GSS) – a progressive inherited prion disease with an extremely rare phenotype that changed dynamically during the course of the disease and eventually led to the misdiagnosis of a motor neurone disease. An important feature of this case is a progressive myelopathy, probably due to the deposition of prion protein plaques, with the development of symptoms of lower motor neuron involvement (muscle atrophy, areflexia, fasciculations and muscle hypotonia). Clinical, laboratory, electrophysiological and neuroradiological features of this case are presented. The final diagnosis was verified by whole-exome sequencing – a typical mutation p.P102L in the prion protein gene PRNP was identified. It is discussed whether GSS should be included in the differential diagnosis in patients with progressive motor disorders, a family history and unchanged long nerve conduction function according to electromyography.

   В статье представлено клиническое наблюдение синдрома Герстманна–Штраусслера–Шейнкера (СГШШ) – прогрессирующего наследственного прионного заболевания с крайне редким фенотипом, который на протяжении всего заболевания претерпевал динамические изменения, в итоге приведя к ошибочной диагностике болезни двигательного нейрона. Важной особенностью наблюдения является клиническая картина прогрессирующей миелопатии, вероятно, в результате отложения бляшек прионного белка, с развитием симптомов поражения нижнего мотонейрона (гипотрофии, арефлексия, фасцикуляции и мышечная гипотония). Рассмотрены клинические, лабораторные, электрофизиологические и нейровизуализационные особенности данного случая. Окончательный диагноз был верифицирован при проведении полноэкзомного секвенирования – выявлена типичная для СГШШ мутация p.P102L в гене прионного белка PRNP. Обсуждается целесообразность включения СГШШ в дифференциально-диагностический ряд у пациентов с прогрессирующими двигательными нарушениями, положительным семейным анамнезом и неизмененной проводящей функцией длинных нервов по данным электронейромиографии.

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