Recognizing the Early Signs of CLN2 (Batten Disease)

This webinar addresses the challenge of recognizing CLN2 disease early in pediatric practice, where initial signs can mimic more common presentations and lead to delayed diagnosis or missed referral opportunities. Led by Dr Paul Gissen, the session introduces CLN2 within the broader neuronal ceroid lipofuscinoses (NCLs) spectrum and focuses on the clinical features that should raise suspicion, including language regression, seizures, and motor changes. Through an expert-led case walkthrough, participants will gain practical insight into how suspicion develops over time, how symptom clustering should shift the differential diagnosis, and how earlier recognition can support timely referral, genetic testing, and intervention.

This session examines CLN2 disease, focusing on how early, non-specific signs can be missed in routine pediatric and primary care practice. The webinar combines clinical framing, phenotype-based recognition, a real-world case walk through, and practical escalation guidance to support earlier suspicion and referral.

Expert presentation covers:

• Clinical framing and disease context: IntroducingCLN2 disease within the broader neuronal ceroid lipofuscinoses (NCLs) spectrum, why earlier recognition matters clinically, and why early signs are often missed in routine practice.
• Recognition across phenotypes: Key clinical signs and symptom patterns that should raise suspicion, differences in onset and progression across classical and atypical phenotypes, and common reassurance traps such as “wait and see,” “benign epilepsy,” or “late talker.”
• Expert-led case walkthrough: A step-by-step real-world CLN2 case showing how suspicion should develop overtime, how symptom clustering changes the differential diagnosis, and where escalation, testing, or referral should occur.
• From suspicion to intervention: Practical features to document, escalation triggers, referral and testing pathways, anduse of the diagnostic algorithm to reduce delay.

The session features:

• Why early signs of CLN2 disease are frequently overlooked despite repeated presentations
• How progression and symptom clustering are more informative than isolated findings
• Practical questions clinicians can ask families to uncover progression, regression, and early red flags
• Regional variation in referral and testing pathways when CLN2 is suspected
• How clinicians can document, interpret, and act on evolving clinical concern in routine practice

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.