Sjogren-Larsson syndrome in two sibs with peripheral nerve involvement and bisalbuminaemia

Sjögren-Larsson syndrome in two sibs with peripheral nerve involvement and bisalbuminaemia.

Two sibs are described with Sjögren-Larsson syndrome. Another sib died in early life with signs which appear to be indicative of the same condition. In the two cases studied we have documented signs of peripheral nerve involvement (not previously reported in the literature) which point towards a pathological process acting on ectodermal structures to a greater extent than has previously been co...

Sjogren - Larsson Syndrome

Sjogren-Larsson syndrome (SLS) is an inherited disorder associated with impaired fatty alcohol oxidation due to deficient activity of fatty alcohol:NAD+ oxidoreductase (FAO). FAO is a complex enzyme which consists of two separate proteins that sequentially catalyze the oxidation of fatty alcohol to fatty aldehyde and fatty acid. To determine which enzymatic component of FAO was deficient in SLS...

Sjogren-Larsson syndrome

Sjögren-Larsson syndrome is an inherited neurocutaneous disorder characterized by ichthyosis, intellectual disability, and spastic diplegia or tetraplegia. Patients have deficient activity of fatty aldehyde dehydrogenase due to mutations in the ALDH3A2 gene, which results in altered lipid composition of their tissues. In this article, the author discusses new information about the biochemical p...

A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that reveal...

Journal of Pediatric Sciences Sjogren Larsson Syndrome in three siblings of an Indian family