Open AccessSjogren-Larsson syndrome: A rare neurocutaneous disorder
Author(s) -
Velusamy Subramanian,
Praveen Hariharan,
Janani Balaji
Publication year - 2016
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.181267
Subject(s) - spastic diplegia , medicine , congenital ichthyosis , ichthyosis , dermatology , spastic quadriplegia , pathology , psychiatry , cerebral palsy
Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehydes. This case is presented for its rarity.