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

ÇAĞLAYAN A. O., Gumus H.

JOURNAL OF CHILD NEUROLOGY, cilt.25, sa.8, ss.1003-1005, 2010 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 25 Sayı: 8
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1177/0883073809348972
  • Dergi Adı: JOURNAL OF CHILD NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1003-1005
  • Anahtar Kelimeler: genetics, ichthyosis, neurocutaneous syndrome, ALDEHYDE DEHYDROGENASE-DEFICIENCY, GENE, MUTATIONS
  • Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

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.