SciELO - Scientific Electronic Library Online

vol.116 issue6Adenitis-cellulitis syndrome, an infrequent form of presentation of the late-onset neonatal septicemia: Report of two casesMinimally invasive treatment of biliary tract injury secondary to closed abdominal trauma: Clinical case author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




  • Have no cited articlesCited by SciELO

Related links

  • Have no similar articlesSimilars in SciELO


Archivos argentinos de pediatría

Print version ISSN 0325-0075On-line version ISSN 1668-3501


GARCIA-ORTIZ, Liliana et al. Sjögren-Larsson syndrome: Pediatric case report. Arch. argent. pediatr. [online]. 2018, vol.116, n.6, pp.e773-e777. ISSN 0325-0075.

Sjogren-Larsson syndrome is characterized by congenital ichthyosis, mental retardation and spastic diplegia or quadriplegia. The primary defect in this syndrome is mutation of ALDH3A2 gen that codes for the fatty aldehyde dehydrogenase. Deficiency of this enzyme causes an accumulation of fatty alcohols and fatty aldehydes, leading to altered cell-membrane integrity. Skin, eyes, and the central nervous system are affected latter. The diagnosis is carried out through the cuantification of the enzyme activity.

Keywords : Sjogren-Larsson syndrome; Congenital ichthyosis; Fatty aldehyde dehydrogenase.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )


Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License