Children with CLN2 disease

Differential diagnosis

The differential diagnosis of CLN2 disease varies depending on the stage of disease progression1

CLN2 disease should be considered…

In young children with severe new-onset seizures/epilepsy1

  • Epilepsy syndromes
    • In particular those associated with myoclonic seizures
      • Myoclonic-astatic epilepsy (Doose syndrome)
      • Benign myoclonic epilepsies
      • Progressive myoclonic epilepsies (e.g. Dravet, Lafora disease, Unverricht-Lundborg disease, myoclonic epilepsy with ragged-red fibres)
    • Other epilepsy syndrome (e.g. Lennox-Gastaut syndrome, chanelopathies such as SCN1A or SCN2A)
  • Other metabolic syndromes that may be associated with myoclonic epilepsy (e.g. sialidosis and galactosialidosis)

In children with progressive neurodegeneration, who have been diagnosed with:1,2

  • Grey matter diseases associated with dementia and epilepsy:
    • Other NCL disorders, particularly late-infantile onset variants of CLN5, CLN6, CLN7, CLN8, CLN14
    • Gangliosidoses (e.g. Tay-Sachs disease)
    • Mucopolysaccharidoses (e.g. type III)
    • Mucolipidoses
    • Niemann-Pick type C disease
    • Peroxisomal disorders
    • Mitochondrial disorders
  • White matter diseases associated with motor function and significant abnormality shown by magnetic resonance imaging (MRI)
    • Leukodystrophies, in particular:
      • Krabbe disease
      • Metachromatic leukodystrophy
      • Adrenoleukodystrophy

Other progressive paediatric brain disorders should be excluded2

  • Inflammation and infections
  • Tumours
  • Hydrocephalus
  • Toxic disturbances

References: 1. Fietz M et al. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Mol Genet Metab.2016; 119:160-167; 2.Chang M et al. CLN2. In: Mole S, Williams R, and Goebel H, eds. The neuronal ceroid lipofuscinoses (Batten Disease). 2nd ed. Oxford, United Kingdom: Oxford University Press; 2011:80-109.