Sjögren-Larsson syndrome: Pediatric case report
Síndrome de Sjögren-Larsson: Reporte de caso pediátrico

Liliana García-Ortiz, Rosenda Gómez-López, Carlos I Rivera-Pedroza, Yuritzi Santillán-Hernández, María Del C Chima-Galán, José Gutiérrez-Salinas
2018 Archivos Argentinos de Pediatria  
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
more » ... me activity. This case report describes the diagnosis of a clinical syndrome with symptoms of Sjogren-Larsson syndrome by the quantification of the enzymatic activity in a culture of fibroblasts. Also, taking into account the genealogy of the patient, the study was conducted in the parents and a brother with signs suggestive of Sjogren-Larsson syndrome.
doi:10.5546/aap.2018.e773 pmid:30457735 fatcat:24idkgjfabab7mrc4n44tlpcfu