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Archives de pédiatrie
Volume 15, n° 11
pages 1648-1651 (novembre 2008)
Doi : 10.1016/j.arcped.2008.07.022
Received : 22 May 2007 ;  accepted : 31 July 2008
Syndrome de Sjögren-Larsson en rapport avec une nouvelle mutation chez un enfant marocain
Sjögren-larsson syndrome: A novel mutation in a Moroccan child
 

M.A. Rafai 1, , F.Z. Boulaajaj 1, A. Seito 2, Y. Suga 3, I. Slassi 1, H. Fadel 4
1 Service de neurologie, explorations fonctionnelles, CHU Ibn Rochd, quartier des Hôpitaux, Casablanca, Maroc 
2 Institut Pasteur, Tanger, Maroc 
3 Pharmacology department, Tokyo, Japon 
4 Unité de neurologie, hôpital Al-Kortobi, Tanger, Maroc 

Auteur correspondant. 4, rue Varsovie, appartement 8, résidence Achokrolila, boulevard 2-Mars, Casablanca, Maroc.
Résumé

Le syndrome de Sjögren-Larsson est une affection neurocutanée héréditaire très rare, en rapport avec un déficit en une enzyme microsomale, la FALDH. Les auteurs rapportent un cas de syndrome de Sjögren-Larsson typique chez une fillette marocaine de 7 ans associant la triade classique (ichtyose congénitale, retard mental, paraparésie spastique) et une épilepsie. L’étude génétique a révélé une nouvelle mutation de type substitution (G109A), à l’état homozygote sur l’exon 2 du gène de la FALDH au niveau du chromosome 17.

The full text of this article is available in PDF format.
Summary

Sjögren-Larsson syndrome is a very rare inherited neurocutaneous disorder caused by a deficiency of microsomal enzyme fatty aldehyde dehydrogenase (FALDH). The authors report a case of typical Sjögren-Larsson syndrome in a 7-year-old Moroccan child who presented with classical symptoms (congenital ichthyosis, mental retardation, and spastic paraparesis) and epilepsy. The genetic study revealed a new mutation in the FALDH gene mapped to chromosome 17, consisting in a G109A substitution in exon 2.

The full text of this article is available in PDF format.

Mots clés : Syndrome de Sjögren-Larsson, substitution G109A, exon2 du gène FALDH




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