What this covers
CLN2 disease is a rare inherited condition — a form of Batten disease, also called late-infantile neuronal ceroid lipofuscinosis — that causes progressive neurological decline in young children. An international group of CLN2 specialists reviewed the available evidence and agreed a set of practical recommendations for spotting the disease as early as possible and confirming it in the laboratory.
Key takeaways
- The combination of seizures and language delay in a child aged two to four should raise suspicion of CLN2 disease.
- Diagnosis is confirmed by measuring TPP1 enzyme activity, ideally alongside genetic testing of the CLN2/TPP1 gene.
- Dried blood spot testing makes enzyme screening quicker and more widely accessible.
Why it matters
The recommendations tackle the diagnostic delay that has historically cost children months or years, because treatment works best before significant neurological decline has set in.
