Sjogren-Larsson Syndrome: A Rare Differential Diagnosis of Cerebral Palsy

Abstract

Sjogren-Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous disorder caused by a deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Major findings of Sjogren-Larsson Syndrome are ichthyosis, mental retardation and spasticity in the form of diplegia or quadriplegia. Neurologic symptoms and signs appear during the first or second year of life and consist of delay in reaching motor milestones due to spasticity. Due to these physical findings patients with SLS might be misdiagnosed as cerebral palsy. We report a case presented with icthyosis and learning difficulty and previously diagnosed as cerebral palsy.




doi: http://dx.doi.org/10.4021/ijcp58w