Sjögren-Larsson syndrome is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene that is encoding fatty aldehyde dehydrogenase. Prevalence is estimated at 1/250,000. The syndrome is characterized by congenital ichthyosis, spastic diplegia and mental retardation. Clinical features develop prenatally and during infancy. The diagnosis of Sjögren-Larrson syndrome is confirmed by measuring fatty acid aldeyhde dehydrogenase or fatty alcohol oxidoreductase activity in cultured fibroblasts from skin biopsies. Diagnosis can be confirmed by mutation analysis of the ALDH3A2 gene. In this article two patients with ichthyosis, developmental delay, spastic diplegia were described. We reported these cases because Sjögren-Larrson syndrome is a very rare disease and should be kept in mind in the differantial diagnosis of coexisting ichtyosis and spastic diplegia.
Key Words: Sjögren-Larrson Syndrome, İchtiyosis, Spastic Diplegia.
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