Sjögren–Larsson Syndrome (SLS) - A Case Report

Abstract

Introduction: Sjogren Larsson syndrome (SLS) is a rare autosomal recessive inborn error of lipid metabolism. The classical triad of ichthyosis, mental retardation and spasticity characterizes clinical features. There are only 200 cases reported worldwide. Aim: To report 3 cases from the same family and the index patient having a classical presentation. Case: Eldest female and two males, who display congenital ichthyosis, whose parents have no such symptoms. Both males complained of diffuse scales all over the body with mild erythema and severe itching, since birth, no history of blisters was present. Nails, teeth, hair and sweating were normal. They had itching all over the body with accentuation over flexural areas. The youngest has neurological as well as psychiatric problems as Bipolar disorder. Discussion: Mental retardation is common, depressive episodes are a common sequlae, however clear bipolar illness is not reported. Some behavioral phenotypes of ADHD have been reported in the literature . Seizures are commonly reported, however our index patient did not have any history. Most studies on icthyosis give a similar picture as above cases.