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Neuropediatrics 1998; 29(6): 322-323
DOI: 10.1055/s-2007-973586
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Juvenile Form of Dihydropteridine Reductase Deficiency in 2 Tunisian Patients

A. 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
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Publikationsdatum:
12. März 2007 (online)

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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