Sjögren–Larsson Syndrome: A Case Report of a Rare Neuro-cutaneous Disorder
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.
Copyright (c) 2019 Manish Pradhan, Arun Giri, Dipa Rai, Rajeev Yadav
This work is licensed under a Creative Commons Attribution 4.0 International License.
Copyright on any article published by Nepalese Medical Journal is retained by the author(s).
Authors grant Nepalese Medical Journal a license to publish the article and identify itself as the original publisher.
Authors also grant any third party the right to use the article freely as long as its integrity is maintained and its original authors, citation details and publisher are identified.
All articles published in Nepalese Medical Journal licensed under a Creative Commons Attribution 4.0 International License.
This license permits use, distribution and reproduction in any medium, provided the original work is properly cited.