Sjögren-Larsson syndrome: A study of clinical symptoms in six children

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation. It is an inborn error of lipid metabolism caused by deficiency of the enzyme fatty aldehyde dehydrogenase. We report our observations of six...

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Detalles Bibliográficos
Autores principales: Srinivas, Sahana M., Raju, KN Vykunta, Hiremagalore, Ravi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030352/
https://www.ncbi.nlm.nih.gov/pubmed/24860759
http://dx.doi.org/10.4103/2229-5178.131099
Descripción
Sumario:Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation. It is an inborn error of lipid metabolism caused by deficiency of the enzyme fatty aldehyde dehydrogenase. We report our observations of six children with SLS.

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