Juvenile Form of Dihydropteridine Reductase Deficiency in 2 Tunisian Patients

A. Larnaout; S. Belal; N. Miladi; N. Kaabachi; A. Mebazza; J. L. Dhondt; F. Hentati

doi:10.1055/s-2007-973586

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Neuropediatrics 1998; 29(6): 322-323
DOI: 10.1055/s-2007-973586

Short communications

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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Publication History

Publication Date:
12 March 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

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