| neuronal ceroid-lipofuscinosis | A heritable lipidosis with cytoplasmic inclusions staining for ceroid and lipofuscin. Clinically the patient has progressive dementia, retinal degeneration, seizures, and myoclonic jerks. It was formerly thought to be related to tay-sachs disease but the biochemical defect is as yet undetermined. Named according to age of onset: jansky-bielschowsky disease, 2-4 years; batten-spielmeyer-vogt disease, 5-11 years; and kufs disease, adult. (12 Dec 1998) |
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| ceroid | A naturally occurring lipid pigment with histochemical characteristics similar to lipofuscin. It accumulates in various tissues in certain experimental and pathological conditions. (12 Dec 1998) |
| lipofuscinosis | Abnormal storage of any one of a group of fatty pigments. Ceroid lipofuscinosis, cerebral sphingolipidosis, late juvenile type. Neuronal ceroid lipofuscinosis, a group of diseases characterised by accumulation of abnormal pigments in tissue (previously classified as cerebral sphingolipidoses). Major subtypes include chronic juvenile form (Batten disease), slowly progressive behaviour and visual symptoms, autosomal recessive inheritance; acute, late infantile form (Bielschowsky disease); autosomal recessive inheritance; chronic adult form (Kufs disease), variable inheritance; acute infantile form (Santavuori-Haltia disease), fulminating motor and mental deterioration often associated with myoclonic seizures. Minor forms have also been described. (05 Mar 2000) |