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Neuropediatrics 1998; 29(6): 322-323
DOI: 10.1055/s-2007-973586
DOI: 10.1055/s-2007-973586
Short communications
© Hippokrates Verlag GmbH Stuttgart
Juvenile Form of Dihydropteridine Reductase Deficiency in 2 Tunisian Patients
Further Information
Publication History
Publication Date:
12 March 2007 (online)
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