This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Miladi, N. Articles by Hentati, F. Search for Related Content PubMed PubMed Citation Articles by Miladi, N. Articles by Hentati, F. Social Bookmarking                         What's this?

Dihydropteridine Reductase Deficiency in a Large Consanguineous Tunisian Family: Clinical, Biochemical, and Neuropathologic Findings

Institut National de Neurologie, Tunis, Tunisia

Abdelmajid Larnaout, MD

Institut National de Neurologie, Tunis, Tunisia

Jean-Louis Dhondt, MD

Laboratoire de Biochimie, Faculté Libre de Médecine, Lille, France

Marie-Françoise Vincent, MD

Laboratoire de Chimie physiologique, Faculté de Médecine, Université Catholique de Louvain, Brussels, Belgium

Naziha Kaabachi, PhD

Laboratoire de Biochimie, Hôpital La Rabta, Tunis, Tunisia

Fayçal Hentati, MD

Institut National de Neurologie, Tunis, Tunisia

We report the case of a large consanguineous Tunisian family of seven siblings suffering from dihydropteridine reductase deficiency with either typical clinical, biochemical, or autopsy findings. Two cousins also were reported to have the same symptoms. This metabolic disorder is characterized by severe microcephaly, psychomotor regression, and progressive basal ganglia calcifications. Dihydropteridine reductase assay on samples collected from the two brothers still alive did not show measurable activity. The sister and four brothers died between the ages of 3 years and 7 years. A neuropathology study done on the sister showed diffuse demyelination throughout the white matter and spongy vacuolation in the subthalamic nuclei, the superior cerebellar peduncles and the tegmentum tracts of the brain stem. The anterointernal part of the putamen was completely necrotic with nearly total nerve cell loss. Abnormal vascular proliferation and calcification of the walls of small, medium, and large arteries and veins, as well as diffusely scattered pericapillary and isolated calcospherites, were seen in this necrotic region. We think that folate deficiency may be involved in the pathogenesis of the basal ganglia calcification. (J Child Neurol 1998;13:475-480).

Journal of Child Neurology, Vol. 13, No. 10, 475-480 (1998)
DOI: 10.1177/088307389801301002


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?

This article has been cited by other articles:

				N. Blau, L. Bonafe, I. Krageloh-Mann, B. Thony, L. Kierat, M. Hausler, and V. Ramaekers Cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome: A new phenotype Neurology, September 9, 2003; 61(5): 642 - 647. [Abstract] [Full Text] [PDF]