Sjogren-Larsson syndrome: A rare neurocutaneous disorder

Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehy...

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Autores principales: Subramanian, Velusamy, Hariharan, Praveen, Balaji, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862294/
https://www.ncbi.nlm.nih.gov/pubmed/27195039
http://dx.doi.org/10.4103/1817-1745.181267
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author Subramanian, Velusamy
Hariharan, Praveen
Balaji, J.
author_facet Subramanian, Velusamy
Hariharan, Praveen
Balaji, J.
author_sort Subramanian, Velusamy
collection PubMed
description Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehydes. This case is presented for its rarity.
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spelling pubmed-48622942016-05-18 Sjogren-Larsson syndrome: A rare neurocutaneous disorder Subramanian, Velusamy Hariharan, Praveen Balaji, J. J Pediatr Neurosci Case Report Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehydes. This case is presented for its rarity. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC4862294/ /pubmed/27195039 http://dx.doi.org/10.4103/1817-1745.181267 Text en Copyright: © 2016 Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Subramanian, Velusamy
Hariharan, Praveen
Balaji, J.
Sjogren-Larsson syndrome: A rare neurocutaneous disorder
title Sjogren-Larsson syndrome: A rare neurocutaneous disorder
title_full Sjogren-Larsson syndrome: A rare neurocutaneous disorder
title_fullStr Sjogren-Larsson syndrome: A rare neurocutaneous disorder
title_full_unstemmed Sjogren-Larsson syndrome: A rare neurocutaneous disorder
title_short Sjogren-Larsson syndrome: A rare neurocutaneous disorder
title_sort sjogren-larsson syndrome: a rare neurocutaneous disorder
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862294/
https://www.ncbi.nlm.nih.gov/pubmed/27195039
http://dx.doi.org/10.4103/1817-1745.181267
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AT hariharanpraveen sjogrenlarssonsyndromearareneurocutaneousdisorder
AT balajij sjogrenlarssonsyndromearareneurocutaneousdisorder

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