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

In young children with severe new-onset seizures/epilepsy

• 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, chanellopathies such as SCN1A or SCN2A)
• Other metabolic syndromes that may be associated with myoclonic epilepsy (eg, sialidosis and galactosialidosis)

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

• 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 C disease
  • Peroxisomal disorders
  • Mitochondrial disorders
• White matter diseases associated with motor function and significant abnormality on MRI
  • Leukodystrophies, in particular:
    • Krabbe disease
    • Metachromatic leukodystrophy
    • Adrenoleukodystrophy