Santavuori-Haltia disease

Santavuori-Haltia disease

(săn′tă-voo″ŏ-rē-hăl′tē-ă dĭ-zēz′),

CLN1

An aggressive neuronal ceroid lipofuscinosis, with onset between 6 and 18 months, and marked by microcephaly, myoclonic jerking, seizures, and death, usually before the age of 5.
Medical Dictionary, © 2009 Farlex and Partners
References in periodicals archive ?
(24) The infantile form (Santavuori-Haltia disease) and late infantile form (Jansky-Bielschowsky disease) progress rapidly and turn fatal before the end of childhood.