Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease
- PMID: 27043294
- DOI: 10.1055/s-0036-1579784
Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease
Abstract
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease, OMIM 204500) is a rare autosomal-recessive lysosomal storage disorder. It is one of the most common neurodegenerative disorders in childhood. Symptoms include epilepsy, rapid motor and language regression, dementia, visual loss, and a complex movement disorder in later stages of the disease. We report on two children with genetically confirmed late-infantile CLN2 disease who developed a severe exacerbation of their complex movement disorder leading to hyperthermia, hyper-CK-emia and decreased level of consciousness over several weeks despite different therapeutic approaches. Both patients were on long-term antiepileptic treatment with valproate and only after the withdrawal of valproate, the movement disorder disappeared and level of consciousness improved. These observations emphasize that valproate has to be considered as a possible risk factor in patients in later stages of late-infantile CLN2 disease who develop a rapidly progressive complex movement disorder.
Georg Thieme Verlag KG Stuttgart · New York.
Similar articles
-
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study.Lancet Child Adolesc Health. 2018 Aug;2(8):582-590. doi: 10.1016/S2352-4642(18)30179-2. Epub 2018 Jul 2. Lancet Child Adolesc Health. 2018. PMID: 30119717 Free PMC article.
-
Management Strategies for CLN2 Disease.Pediatr Neurol. 2017 Apr;69:102-112. doi: 10.1016/j.pediatrneurol.2017.01.034. Epub 2017 Feb 4. Pediatr Neurol. 2017. PMID: 28335910 Review.
-
Valproate-induced hyperammonemia in juvenile ceroid lipofuscinosis (Batten disease).Seizure. 2014 Jun;23(6):429-34. doi: 10.1016/j.seizure.2014.02.011. Epub 2014 Feb 28. Seizure. 2014. PMID: 24647346
-
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:682-8. Pediatr Endocrinol Rev. 2016. PMID: 27491216 Review.
-
Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis.Hum Gene Ther. 2004 Nov;15(11):1131-54. doi: 10.1089/hum.2004.15.1131. Hum Gene Ther. 2004. PMID: 15610613 Clinical Trial.
Cited by
-
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.Orphanet J Rare Dis. 2021 Apr 21;16(1):185. doi: 10.1186/s13023-021-01813-5. Orphanet J Rare Dis. 2021. PMID: 33882967 Free PMC article.
-
Non-convulsive Status Epilepticus in SEMA6B-Related Progressive Myoclonic Epilepsy: A Case Report With Literature Review.Front Pediatr. 2022 Apr 28;10:859183. doi: 10.3389/fped.2022.859183. eCollection 2022. Front Pediatr. 2022. PMID: 35573939 Free PMC article.
-
Drug Treatment of Progressive Myoclonic Epilepsy.Paediatr Drugs. 2020 Apr;22(2):149-164. doi: 10.1007/s40272-019-00378-y. Paediatr Drugs. 2020. PMID: 31939107 Free PMC article. Review.
-
Application of Anticonvulsants, Antiepileptic Drugs, and Vitamin C in the Treatment and Analysis of Batten Disease.Cureus. 2022 Jan 30;14(1):e21745. doi: 10.7759/cureus.21745. eCollection 2022 Jan. Cureus. 2022. PMID: 35145828 Free PMC article. Review.
-
Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.Int J Mol Sci. 2022 May 20;23(10):5729. doi: 10.3390/ijms23105729. Int J Mol Sci. 2022. PMID: 35628533 Free PMC article. Review.
Publication types
MeSH terms
Substances
Supplementary concepts
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Research Materials
