Recognizing the Early Signs of CLN2 (Batten Disease)

CLN2 (Batten) disease is the most common cause of childhood dementia, yet diagnosis is frequently delayed by two years or more after the first seizure. In this session, Prof. Paul Gissen outlines the genetics, biochemistry, and epidemiology of CLN2 disease, a lysosomal storage disorder caused by deficiency of the TPP1 enzyme within the broader neuronal ceroid lipofuscinosis (NCL) group. He walks through the three earliest clinical red flags that should prompt urgent testing: language delay, new-onset unprovoked seizures, and emerging ataxia, and explains why the combination of these signs in a child over two warrants immediate enzyme activity testing and gene sequencing rather than a prolonged diagnostic workup.

Prof. Gissen also reviews the diagnostic algorithm in detail, including EEG and brain MRI findings, and cautions that a normal EEG or an unremarkable early MRI does not rule out CLN2, since neurodegeneration can begin before imaging or electrophysiological changes appear. He discusses the differential diagnosis, including Dravet syndrome, other NCL subtypes, mitochondrial disease, Niemann-Pick type C, and GLUT1 deficiency, and addresses the rationale for early initiation of enzyme replacement therapy, drawing on pivotal trial results showing a significant slowing of disease progression when treatment begins early. The session closes with an extended Q&A covering atypical presentations, potential biomarkers, borderline enzyme results, and treatment tolerability.

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References: (1) Nickel M et al. Lancet Child Adolesc Health 2018;2:582–90 (2) Mole SE et al. Orphanet J Rare Dis 2021;16:185 (3) Lourenço CM et al. J Paediatr Child Health 2021;57:519–25

This webinar is intended for healthcare professionals only.
This is a promotional webinar sponsored and funded by BioMarin. BioMarin medicines will be discussed.

All adverse event(s) discussed will be notified to the Pharmacovigilance Department of BioMarin. BioMarin does not recommend the use of any product in any manner other than that described in the approved Prescribing Information. Prescribing information and adverse event reporting information can be found here.  Regulatory status and approved indications of any product may vary between countries, please check the registration status of any product in your respective country. Please refer to your local Prescribing Information/SmPC before prescribing.