Abstract
Sjögren–Larsson syndrome is a rare autosomal recessive neuro-cutaneous disease. The dominant features are congenital ichthyotic hyperkeratosis, spastic diplegia and mild to moderate mental retardation. The cause of this syndrome is the deficiency of microsomal fatty aldehyde dehydrogenase. The deficiency of this enzyme results in the accumulation of fatty aldehydes and fatty alcohols in various tissues including skin. Here, we report a case presented with ichthyosis, bilateral lower limb spasticity, and mental retardation, diagnosed as Sjögren–Larsson syndrome.
Highlights
Sjögren–Larsson syndrome (SLS) is a rare autosomal recessive neuro-cutaneous disease featuring congenital ichthyotic hyperkeratosis, spastic diplegia and mild to moderate mental retardation
It occurs due to deficiency of microsomal fatty aldehyde dehydrogenase (FALDH) which results in the accumulation of fatty aldehydes and fatty alcohols in various tissues
This rare syndrome has mutations in ALDH3A2 located in chromosome 17p11.2.1 Neurological symptoms and signs appear during the first 2 years of life and consist of delay in reaching motor milestones due to spastic diplegia or much less commonly, of spastic tetraplegia
Summary
Sjögren–Larsson syndrome (SLS) is a rare autosomal recessive neuro-cutaneous disease featuring congenital ichthyotic hyperkeratosis, spastic diplegia and mild to moderate mental retardation. This rare syndrome has mutations in ALDH3A2 located in chromosome 17p11.2.1 Neurological symptoms and signs appear during the first 2 years of life and consist of delay in reaching motor milestones due to spastic diplegia or much less commonly, of spastic tetraplegia. We report a case presented with ichthyosis, bilateral lower limb spasticity, and mental retardation, diagnosed as Sjögren–Larsson syndrome.
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