neuronal ceroid lipofuscinosis

Neuronal
ceroid lipofuscinosis: Magnetic Resonance Imaging findings of brain. Axial T2W FLAIR image shows marked prominence of cerebral sulci.
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Neuronal
ceroid lipofuscinosis: Magnetic Resonance Imaging findings of brain. Sagittal T1 Inversion Recovery Image reveals diffuse knife blade atrophy of cerebral cortex with marked prominence of cerebral sulci and cerebellar folia.
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Neuronal
ceroid lipofuscinosis: Magnetic Resonance Imaging findings of brain. Axial T2W image shows prominent cerebellar folia and knife blade atrophy in the temporal lobes. There is dilatation of the forth ventricle, and the prepontine and ambient cisterns.
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Neuronal
ceroid lipofuscinosis: Magnetic Resonance Imaging findings of brain. Sagittal T2W image shows thinning of corpus callosum, and atrophy of the cerebellum and brain stem. There is dilatation of the third and fourth ventricles, the cisterna megna and pre-pontine cistern.
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Neuronal
ceroid lipofuscinosis: Magnetic Resonance Imaging findings of brain. Axial T2W image shows bilateral periventricular white matter hyperintensity with moderate to severe dilatation of the ventricular system and diffuse knife blade atrophy of cerebral cortex.
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Neuronal
ceroid lipofuscinosis: Magnetic Resonance Imaging findings of brain. Coronal T2W image shows "boxcar ventricles" with ventriculomegaly associated with atrophy of both caudate nuclei. Diffuse knife blade cortical atrophy is noted with prominent sylvian fissures and cerebral sulci.
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The neuronal ceroid lipofuscinoses (NCLs) are a group of genetic neurodegenerative disorders of the childhood in which there is excessive accumulation of lipofuscin.

The group consists of :

  • type 1: Santavuori-Haltia disease
  • type 2: Jansky-Bielschowsky disease
  • type 3: juvenile, Batten-Spielmeyer-Vogt disease
  • type 4: Kufs disease
  • type 5: Finnish variant late infantile
  • type 6: variant late infantile
  • type 7: CLN7
  • type 8: CLN8
  • type 9
  • type 10: CLN10 disease

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.

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

Radiographic features

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

MRI
  • 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
    • infantile subtypes:
      • thin hyperintense periventricular bands
    • late infantile subtypes:
  • spectroscopy:
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