1/3. 5-lipoxygenase inhibition: a new treatment strategy for sjogren-larsson syndrome.The sjogren-larsson syndrome (SLS) is a severe neurocutaneous disorder due to fatty aldehyde dehydrogenase (FALDH) deficiency. The recent discovery of the role of FALDH in the degradation of leukotriene b4 (LTB4) opened the way to the development of a new therapeutic strategy for SLS, i.e. 5-lipoxygenase inhibition. We treated one SLS patient with zileuton during five weeks. During the treatment period we found decreased values of LTB4 and omega-OH-LTB4. The severity of the pruritus diminished, and favorable changes in the child's behavior were observed. The height of the prominent "lipid peak" of cerebral white matter (that is characteristically found on proton magnetic resonance spectroscopy in SLS patients) decreased during treatment, and increased again when treatment was stopped. In conclusion, the beneficial effects of 5-lipoxygenase inhibition in SLS are very promising and encourage further research.- - - - - - - - - - ranking = 1keywords = neurocutaneous (Clic here for more details about this article) |
2/3. Report of a Turkish child with Sjoren-Larsson syndrome associated with peripheral nerve involvement.Sjoren-Larsson syndrome is a rare hereditary neurocutaneous disorder characterized by ichthyosis, spastic di- or tetra-plegia, and mild to moderate mental retardation. In this article, we present a nine-year-old girl with the classical features of the syndrome associated with peripheral nerve involvement because of its rare presentation. To the best of our knowledge, only three cases of Sjoren-Larsson syndrome with peripheral nerve involvement have been previously reported in the literature. We assume that Sjoren-Larsson syndrome involves extensive disorders of the ectodermal tissues, including the peripheral nerves as well as the skin and the central nervous system.- - - - - - - - - - ranking = 1keywords = neurocutaneous (Clic here for more details about this article) |
3/3. sjogren-larsson syndrome: a case report and literature review.sjogren-larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder most commonly seen in the Scandinavian population and characterized by congenital ichthyosis, mental retardation, and spastic diplegia or quadriplegia. We report a case of SLS in an 11-month-old girl of Lebanese and Mexican-Syrian ancestry who presented with ichthyosis, developmental delay, and spasticity. Results of an enzymatic assay and genomic dna testing in cultured skin fibroblasts confirmed a homozygous C237Y mutation. These findings support the rich diversity of mutations associated with this syndrome.- - - - - - - - - - ranking = 1keywords = neurocutaneous (Clic here for more details about this article) |