Int J Neurosci 2020 Nov 29;130(11):1156-1160. Epub 2020 Jan 29.
Department of Neurology, Affiliated Hospital of Jining Medical University, Jining, Shandong, 272000, China.
Sjögren-Larsson syndrome is a rare, autosomal, recessive neurocutaneous disorder caused by mutations in the gene, which encodes the fatty aldehyde dehydrogenase enzyme. Deficiency in fatty aldehyde dehydrogenase results in an abnormal accumulation of toxic fatty aldehydes in the brain and skin, which cause spasticity, intellectual disability, ichthyosis, and other clinical manifestations. We present the clinical features and mutation analyses of a case of SLS. Read More