Resumo

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.  http://dx.doi.org/10.5546/aap.2018.e773.

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.

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

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