Neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinosis is a group of genetic neurodegenerative disorders of the childhood in which there is excessive accumulation of lipofuscin.

It currently consists of: 1

Clinical presentation is heterogeneous as is onset, which renders the diagnosis hard to make. Skin punch biopsy can reveal abnormality typical of the disease2.

MR brain volumetry has been shown to correlate well with disease progression, more so than current clinical disease scores3

Radiographic features are nonspecific and include mainly generalised brain atrophy and white matter changes probably induced by wallerian degeneration and gliosis2. Brain atrophy can be extreme with endstage disease, associated with diffuse (complete) white matter changes2. Cerebellar atrophy tends to be significant.

MRI
  • T2/FLAIR:
    • nonspecific hyperintense white matter changes
      • at the extreme of the spectrum, the white matter can appear more hyperintense than the grey matter4
    • infantile subtypes:
      • thin hyperintense periventricular bands
    • late infantile subtypes:
      • hypointense thalami (late infantile subtypes) or basal ganglia
  • spectroscopy:
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Article Information

rID: 48476
Synonyms or Alternate Spellings:
  • Lipofuscinosis

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