Neuropediatrics, Table of Contents Neuropediatrics 1998; 29(6): 322-323DOI: 10.1055/s-2007-973586 Short communications © Hippokrates Verlag GmbH StuttgartJuvenile Form of Dihydropteridine Reductase Deficiency in 2 Tunisian PatientsA. Larnaout1 , S. Belal1 , N. Miladi1 , N. Kaabachi2 , A. Mebazza2 , J. L. Dhondt3 , F. Hentati1 1Service de Neurologie, National Institute of Neurology and 2Laboratory of Biochemistry, Ernest Conseil Hospital, Tunis, Tunisia, 3Laboratoire de Biochimie. Faculté Libre de Médécine, Lille, France Recommend Article Abstract PDF Download Buy Article Abstract Two brothers are described who had juvenile-onset DHPR deficiency. Both were considered normal until six years of age when they developed a fluctuating and progressive encephalopathy combining mental retardation, epilepsy, pyramidal, cerebellar and extrapyramidal signs. Key words Dihydropteridine reductase deficiency - Juvenile fluctuating and progressive encephalopathy PDF (297 kb)
