García-Ortiz Liliana, Gómez-López Rosenda, Rivera-Pedroza Carlos I, Santillán-Hernández Yuritzi, Chima-Galán María Del C, Gutiérrez-Salinas José
División de Medicina Genómica. Centro Médico Nacional "20 de Noviembre", ISSSTE.
Laboratorio de Bioquímica y Medicina Experimental, Centro Médico Nacional "20 de Noviembre", ISSSTE.
Arch Argent Pediatr. 2018 Dec 1;116(6):e773-e777. doi: 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. 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.
舍格伦-拉尔松综合征的特征为先天性鱼鳞病、智力迟钝以及痉挛性双侧瘫或四肢瘫。该综合征的主要缺陷是编码脂肪醛脱氢酶的ALDH3A2基因突变。这种酶的缺乏会导致脂肪醇和脂肪醛的积累，从而改变细胞膜的完整性。皮肤、眼睛和中枢神经系统随后会受到影响。诊断通过酶活性定量来进行。本病例报告描述了通过对成纤维细胞培养物中的酶活性进行定量，诊断出具有舍格伦-拉尔松综合征症状的临床综合征。此外，考虑到患者的家系，对有舍格伦-拉尔松综合征疑似体征的父母和一个兄弟进行了研究。
