A very rare neurocutaneous disorder in 2 siblings: Sjögren-Larsson syndrome

J Child Neurol. 2010 Aug;25(8):1003-5. doi: 10.1177/0883073809348972. Epub 2010 Feb 8.

Abstract

Sjögren-Larsson syndrome is an autosomal-recessive hereditary disorder involving congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. It is caused by the deficient activity of fatty aldehyde dehydrogenase. In this report, the authors describe 2 siblings with Sjögren-Larsson syndrome. Both the patients had generalized ichthyosis, and the older one had spastic paraplegia and mental retardation, and the fundus examination revealed foveal and parafoveal glistening dots. The authors report the large kinship with Sjögren-Larsson syndrome, which is a rare and most probably underdiagnosed syndrome.

Publication types

  • Case Reports

MeSH terms

  • Cerebral Palsy / genetics
  • Cerebral Palsy / pathology
  • Cerebral Palsy / physiopathology
  • Child
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Ichthyosis / genetics
  • Ichthyosis / pathology
  • Ichthyosis / physiopathology
  • Infant
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Intellectual Disability / physiopathology
  • Pedigree
  • Siblings
  • Sjogren-Larsson Syndrome / genetics*
  • Sjogren-Larsson Syndrome / pathology*
  • Sjogren-Larsson Syndrome / physiopathology