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neuronal ceroid lipofuscinosis

 

Definition: a group of diseases characterized by accumulation of abnormal pigments in tissue (previously classified as cerebral sphingolipidoses). Major subtypes include chronic juvenile form (Batten disease), slowly progressive behavior 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.

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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