Neuronal ceroid lipofuscinoses in childhood

NCL disorders are progressive brain diseases with an autosomal recessive in heritance in all eleven childhood types. These occur world-wide but may be enriched in some countries. In Finland altogether about 400 patients have b een diagnosed during the last forty years. The most common types are the in fantile and classic juvenile forms with an incidence of 1: 20 000 and 1: 21 000, respectively Personally followed-up are patients with infantile, clas sic and Finnish variant late infantile and classic juvenile types. Clinical , neurophysiological and neuroimaging findings in these four NCL forms are reviewed including also management and diagnostic aspects.