See Also: lipofuscinosis(medicine)
neuronal ceroid-lipofuscinosis(medicine)
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lipofuscinosis (medicine)


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.