Neuronal Ceroid Lipofuscinoses Differential Diagnoses

Updated: May 04, 2017
  • Author: Celia H Chang, MD; Chief Editor: Amy Kao, MD  more...
  • Print
DDx

Diagnostic Considerations

Conditions to consider in the differential diagnosis of neuronal ceroid lipofuscinoses (NCLs) are listed below.

Epileptic encephalopathies are as follows:

  • Ohtahara syndrome

  • West syndrome

  • Dravet syndrome

  • Doose syndrome

  • Lennox Gastaut syndrome

  • Landau Kleffner syndrome

  • Progressive myoclonic epilepsies - Lafora body disease, Unverricht-Lundborg disease

Infections are as follows:

  • HIV-1–associated central nervous system (CNS) complications

  • SSPE

  • Prion disease

Inherited metabolic disorders are as follows:

Chromosomopathies include Rett syndrome.

Other neurodegenerative conditions include Dentato-rubro-pallidal atrophy.

The NCLs are progressive and generally shorten life expectancy. No specific treatment or cure is available for any of the NCLs. Therefore, a delay in diagnosis is unlikely to affect the clinical course or prognosis of the patient.