Neuroradiology

Neuronal ceroid lipofuscinosis

inherited lysosomal degenerative disease characterized by an abnormal sphingolipid metabolism (see lysosomal diseases). Four types are usually identified: infantile, late infantile, juvenile and adult. Eponyms for the different forms are: Santavuori disease, Jansky Bielchowsky disease, Spielmeyer Vogt or Batten disease, Kufs' disease. Clinically a whole range of symptoms is found, including delayed psychomotor development, ataxia, hypotonia, choreoathetosis, epilepsy and visual failure. The grey matter is mainly affected and nonselective diffuse cerebral and cerebellar cortical atrophy is the MR finding; abnormal T2 hyperintensity of the white matter may also be found.

GS