Dystonia secondary to Sjögren-Larsson syndrome.

Abstract

Sjogren–Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide distribution. It consists of ichthyosis, spastic di- or tetraplegia, and mental retardation, caused by an enzymatic defect in fatty alcohol oxidation.1,2⇓ Postmortem findings have shown diffuse or patchy disseminated loss of myelin, lipid deposits, and inconsistent mild loss of gray matter including basal ganglia.2,3⇓ We report a patient diagnosed with SLS and generalized dystonia that predominated over his other neurologic signs. To our knowledge, this is the first description of the association of dystonia with SLS. An 8-year-old right-handed boy of Caucasian, non-Jewish descent was diagnosed with SLS by cultured skin fibroblasts and evaluated for the presence of involuntary jaw opening. He was the product of a normal pregnancy, born at 36 weeks’ gestation. At birth he had exanthema, but his parents received no caution regarding neurologic deficits at that time. However, severe neuromotor and mental developmental delay was apparent by age 1. At 3 years of age, his parents first noticed neck posturing. Afterward, his motor function continued to deteriorate, and the twisting spasms …