Sjögren Larsson syndrome: A case study with unique mutation

•Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by the triad of ichthyosis, intellectual disability, and spastic quadriplegia or diplegia•Genetic testing revealed a nucleotide exchange in a homozygous state at position c.844 in exon 6 of the ALDH3A2 gene (c.844A>T), leading to a stop in the protein sequence p.Ile282.•The presence of neurological symptoms along with ichthyosis should lead to clinical suspicion of SLS.