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
Highlights
We report a case presented with icthyosis and learning difficulty and previously diagnosed as cerebral palsy
Sjogren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder caused by a deficiency of the enzyme fatty aldehyde dehydrogenase which has an important role in lipid and leukotrien B4 mechanism which leads abnormal lipid accumulation occurs in the skin and central nervous system [1]
Sjogren Larsson syndrome is characterized by congenital ichthyosis, mental retardation and spasticity
Summary
Sjogren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder caused by a deficiency of the enzyme fatty aldehyde dehydrogenase which has an important role in lipid and leukotrien B4 mechanism which leads abnormal lipid accumulation occurs in the skin and central nervous system [1]. 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. Due to these physical findings patients with SLS might be misdiagnosed as cerebral palsy.
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