title: Sjögren-Larsson syndrome: a case report and literature review.
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.
authors.affiliation: Division of Pediatric and Adolescent Dermatology, Department of Pediatrics, University of California, San Diego, USA.
authors.forename: Alessandra B
authors.initials: AB
authors.lastname: Alió
authors.forename: Lynne M
authors.initials: LM
authors.lastname: Bird
authors.forename: Scott D
authors.initials: SD
authors.lastname: McClellan
authors.forename: Bari B
authors.initials: BB
authors.lastname: Cunningham
mesh_terms: D001706:Biopsy; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis* / Q000235:genetics*