Neuronal ceroid lipofuscinosis

Last revised by Dr Ali Alsmair on 28 Aug 2022

The neuronal ceroid lipofuscinoses (NCLs) are a group of genetic neurodegenerative disorders of childhood in which there is excessive accumulation of lipofuscin.

The group consists of 1:

Clinical presentation

Clinical presentation is heterogeneous as is onset, which renders the diagnosis hard to make. Skin punch biopsy can reveal abnormality typical of the disease 2.

MR brain volumetry has been shown to correlate well with disease progression, more so than current clinical disease scores 3

Radiographic features

Radiographic features are non-specific and include mainly generalized brain atrophy and white matter changes probably induced by Wallerian degeneration and gliosis 2. Brain atrophy can be extreme with end stage disease, associated with diffuse (complete) white matter changes 2. Cerebellar atrophy tends to be significant.

  • T2/FLAIR:
    • non-specific hyperintense white matter changes
      • at the extreme of the spectrum, the white matter can appear more hyperintense than the grey matter 4
    • infantile subtypes:
      • thin hyperintense periventricular bands
    • late infantile subtypes:
  • spectroscopy:

ADVERTISEMENT: Supporters see fewer/no ads

Cases and figures

  • Case 1
    Drag here to reorder.
  • Updating… Please wait.

     Unable to process the form. Check for errors and try again.

     Thank you for updating your details.