[Sjögren-Larsson syndrome: a novel mutation in a Moroccan child]
M A Rafai1, F Z Boulaajaj, A Seito
1Service de neurologie, explorations fonctionnelles, CHU Ibn Rochd, quartier des Hôpitaux, Casablanca, Maroc. mo.mi2@caramail.com
Abstract:
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.
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