A Very Rare Neurocutaneous Disorder in 2 Siblings: Sjogren-Larsson Syndrome

ÇAĞLAYAN A. O., Gumus H.

JOURNAL OF CHILD NEUROLOGY, vol.25, no.8, pp.1003-1005, 2010 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 8
  • Publication Date: 2010
  • Doi Number: 10.1177/0883073809348972
  • Journal Name: JOURNAL OF CHILD NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1003-1005
  • Keywords: genetics, ichthyosis, neurocutaneous syndrome
  • Dokuz Eylül University Affiliated: No

Abstract

Sjogren-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 Sjogren-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 Sjogren-Larsson syndrome, which is a rare and most probably underdiagnosed syndrome.