ArticleBMJ case reports2016
Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system.
Article in BMJ case reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 8 citations in OpenAlex.
- Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software.Arquivos de neuro-psiquiatria · 2023Article
- Uncrossed corticospinal tracts in a patient with ichthyosis and hemiparesis: a case report.BMC neurology · 2020Article
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Authors and funding
4 authors at 2 institutions in 1 country.
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Abstract
Sjögren-Larsson syndrome is a recessively inherited disease caused by a deficiency of fatty aldehyde dehydrogenase with presenting features of congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation. The basic pathogenic mechanism is deficiency of fatty aldehyde dehydrogenase, which may lead to an accumulation of long-chain fatty alcohols hampering cell membrane integrity, which further disrupts the barrier function of skin and white matter of the brain. MRI of the brain shows diffuse symmetrical white matter hyperintensities on T2-weighted sequences. Although there is no definitive cure for Sjögren-Larsson syndrome, most patients survive until adulthood and management involves therapies directed towards controlling specific problems. We present a case of Sjögren-Larsson syndrome with classical clinical and MRI features, including a few distinctly atypical characteristics in various attributes.
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