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Sjögren-Larsson syndrome: a case report and literature review
Alessandra B Alió1, Lynne M Bird, Scott D McClellan
1Division of Pediatric and Adolescent Dermatology, Department of Pediatrics, University of California, San Diego, USA.
Abstract:
Sjögren-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.
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