Distinguishing CLN2 (Batten Disease): Navigating the differential diagnosis and referral pathways

This webinar addresses the challenge of distinguishing CLN2disease from common diagnostic pathways that can delay recognition, including epilepsy, behavioral disorders, and developmental concerns. Led by Prof. Pasquale Striano and  Dr Marina Trivisano the session focuses on identifying early diagnostic pitfalls, recognizing progression patterns that should prompt reassessment, and applying a structured differential diagnosis framework.Participants will gain practical insight into when CLN2 should enter the differential, how symptom clustering can shift clinical decision-making, and when urgent referral and timely genetic testing discussion are indicated.

The session examines CLN2 disease through the lens of differential diagnosis and referral pathways, focusing on the point at which a common diagnosis no longer explains the child’s clinical trajectory. The webinar combines clinical framing, diagnostic pitfall analysis, disease-specific differential diagnosis, and practical escalation guidance to support earlier recognition and referral.

Expert presentations cover:

• ‍Clinical framing (Dr Marina Trivisano and Dr Pasquale Striano): Recapping key signs and symptoms that should raise suspicion of CLN2 disease and explaining why rare diseases can be dropped from the differential once a common diagnosis is applied.
•  Early diagnostic pitfalls (Dr Marina Trivisano): Exploring epilepsy-first pathways, seizure-focused anchoring, behavioral or developmental labelling, and the distinction between developmental delay, plateau, and true regression.‍
• Differential diagnosis in practice (Dr Pasquale Striano): Examining typical misattribution pathways, red-flag symptom combinations, progression patterns, and the clinical consequences of delayed escalation.
• Testing and escalation (Dr Marina Trivisano): Using a comparative case example to illustrate early versus delayed recognition, applying the CLN2 clinical rating scale, and translating diagnostic results into timely next steps.

The discussion features:

• When clinicians should stop and reassess the original diagnosis
• Balancing watchful waiting with escalation in everyday practice
• Where delays most commonly occur across services and specialties
• Sequential versus parallel investigations and their impact on time to diagnosis
• Clarifying ownership of diagnostic coordination and next steps

References: (1) Fietz M et al. Mol Genet Metab 2016;119:160–7 (expert recommendations) (2) Williams RE et al. Pediatr Neurol 2017;69:102–12 (3) Mole SE et al. Orphanet J Rare Dis 2021;16:185

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.