Children with CLN2 Disease

Early Signs

Emerging clinical findings indicate that CLN2 disease should be suspected in all children aged 2 to 4 with new-onset, unprovoked seizures preceded by a history of language delay

  • In CLN2 disease, onset of unprovoked seizures typically occurs between ages 2 and 4; febrile seizures may also occur1,2
  • In some cases, ataxia or other developmental delays may also occur or may be the first signs of CLN2 disease3

When a young child presents with seizures, ask parents detailed questions about early language development to raise the index of suspicion for CLN2 disease

  • Language delay and seizures may be common symptoms on their own, but the combination of early language delay prior to seizure presentation should raise the index of suspicion for CLN2 disease4,5
  • Test for CLN2 disease in children aged 2 to 4 with these two hallmark symptoms

CLN2 disease diagnostic algorithm5

CLN2 disease diagnostic algorithm

Adapted from a poster presented at the 12th Annual WORLD Symposium; February – March 2016; San Diego, CA.

*Clinical and radiological assessments can be performed (e.g., brain MRI, OCT, VEP, ERG, FA, EM biopsy).

†Includes single gene, symptoms or disease panel, mutation panel, or whole exome sequencing.

References: 1. Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. NCL diseases – clinical perspectives. Biochimica et Biophysica Acta. 2013;1832:1801-1806. 2. Pérez-Poyato MS, Marfa MP, Abizanda IF, et al. Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. J Child Neurol. 2013;28:470-478. 3. Worgall S, Sondhi D, Hackett NR, et al. Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA. Hum Gene Ther. 2008;19:463-474. 4. Nickel M, Jacoby D, Lezius S, et al. Natural history of CLN2 disease: quantitative assessment of disease characteristics and rate of progression. Poster session presented at: The 12th Annual WORLD Symposium; February – March 2016; San Diego, CA. 5. Fietz M, Giugliani R, AlSayed M, et al. Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): diagnostic algorithm and best practice guidelines for a timely diagnosis. Poster session presented at: The 12th Annual WORLD Symposium; February – March 2016; San Diego, CA.