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