Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review

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 <i>CLN5</i>(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 CLN5-associated NCL and may support the development of gene therapy approaches for its treatment.

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Publication Details

Journal
Frontiers in Medicine
Published
2025-08-25
DOI
https://doi.org/10.3389/fmed.2025.1581597
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
0.00

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article

Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review

Mayya V. Zazhivikhina, Z. A. Kondrashova, Dmitriy Korostin, Svetlana Mikhaylova et al.
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Lysosomal Storage Disorders Research
article

Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review

Mayya V. Zazhivikhina, Z. A. Kondrashova, Dmitriy Korostin, Svetlana Mikhaylova, Anastasiia A. Buianova, A. A. Alikhanov, E. K. Donyush, S.V. Piliya, Anna Shmitko, Oleg N. Suchalko, Alina Samitova, Olga P. Parshina, Natalya A. Votyakova, Nadezhda V. Liakhova
article en

Abstract

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 <i>CLN5</i>(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 CLN5-associated NCL and may support the development of gene therapy approaches for its treatment.

Frontiers in MedicineVol. 12
Pirogov Russian National Research Medical University (RU), Russian Children's Clinical Hospital (RU)
Ministry of Health of the Russian Federation
Openalex Percentile: Top 72%
Lysosomal Storage Disorders Research
DOIOpen Access PDFOpenAlex
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