CASE REPORT article
Front. Med.
Sec. Translational Medicine
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1581597
Neuronal Ceroid Lipofuscinosis Type 5 in Russia: The First Case Report and Review of the Literature
Provisionally accepted
Olga P. Parshina1*
Anastasiia A. Buianova1
Svetlana V. Mikhaylova2*Sergey V. Piliya2Alikhan A. Alikhanov2Elena K. Donyush2Zinaida A. Kondrashova2
Nadezhda V. Liakhova2Oleg N. Suchalko1Alina F. Samitova1Аnna O. Shmitko1Mayya V. Zazhivikhina2Natalya A. Votyakova2Dmitriy O. Korostin1- 1Center for Precision Genome Editing and Genetic Technologies for Biomedicine , Pirogov Russian National Research Medical University, Moscow, Russia
- 2Russian Children's Clinical Hospital, Moscow, Moscow Oblast, Russia
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Neuronal ceroid lipofuscinosis (NCL) is one of the most common causes of childhood dementia. NCL type 5 is characterized by epileptic seizures, cognitive decline, and progressive vision loss. Whole exome sequencing was performed, and the identified variant was confirmed by Sanger sequencing. Despite various therapeutic regimens, including novel approaches, seizure control could not be achieved. The disease was caused by a previously undescribed pathogenic variant CLN5(NM_006493.4):c.368del (p.Arg123LysfsTer4). This is the first known case of NCL type 5 in Russia. Unusually, the patient also had a cervical lymphangioma requiring separate medical and surgical intervention. This case report contributes to our understanding of the natural history of CLN5associated NCL and may support the development of gene therapy approaches for its treatment.
Keywords: neuronal ceroid lipofuscinosis, Epilepsy, CLN5, neurodegenerative disease, Next-generation sequencing
Received: 22 Feb 2025; Accepted: 27 Jun 2025.
Copyright: © 2025 Parshina, Buianova, Mikhaylova, Piliya, Alikhanov, Donyush, Kondrashova, Liakhova, Suchalko, Samitova, Shmitko, Zazhivikhina, Votyakova and Korostin. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Olga P. Parshina, Center for Precision Genome Editing and Genetic Technologies for Biomedicine , Pirogov Russian National Research Medical University, Moscow, Russia
Svetlana V. Mikhaylova, Russian Children's Clinical Hospital, Moscow, Moscow Oblast, Russia
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