Identification & Diagnosis

Differential Diagnosis

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

CLN2 disease should be considered…

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 (eg, Dravet, Lafora disease, Unverricht-Lundborg disease, myoclonic epilepsy with ragged-red fibers)
    • Other epilepsy syndrome (eg, Lennox-Gastaut syndrome, channelopathies 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 be en diagnosed with:

  • Gray matter diseases associated with dementia and epilepsy:
    • Other NCL disorders, particularly late-infantile onset variants of CLN5, CLN6, CLN7, CLN8, CLN14
    • Gangliosidoses (eg, Tay-Sachs disease)
    • Mucopolysaccharidoses (eg, 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

Other progressive pediatric brain disorders should be excluded:1

  • Inflammation and infections
  • Tumors
  • Hydrocephalus
  • Toxic disturbances

BioMarin has partnered with Invitae/Lacorp to bring you the Behind the Seizure® program—a no-cost epilepsy gene panel testing program to help health care providers diagnose CLN2 disease earlier.

In as little as 2 weeks, an epilepsy gene panel test can bring you and your eligible patients closer to identifying if there is a genetic cause behind the seizure.

Visit Behind the Seizure to learn more and to order a test.

References:

  1. Chang M, Cooper JD, Davidson BL, 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.