Sjogren-Larsson综合征(附1例报告及文献复习)

Sjogren–Larsson Syndrome:A Case Report and Literature Review

目的 探讨Sjogren-Larsson综合征患儿的临床表型及基因特征。方法 回顾性分析1例以癫间发作起病的Sjogren-Larsson综合征患儿临床表现及辅助检查结果,并结合相关文献进行复习讨论。结果 患儿男性,1岁5月龄,因“1 d内抽搐1次”入院,入院后发现患儿周身皮肤干燥,四肢皮肤触感粗糙,局部伴脱皮屑,皮肤色素分布不均匀。精神运动发育迟滞。头颅MRI和长程脑电图未见异常。胸部X线检查提示胸腰椎右侧偏斜,胸腰椎交界区曲度后凸。家系全外显子基因测序提示:患儿ALDH3A2基因存在致病突变,其父母均为杂合突变携带者,分别携带c.325G>A(p.[Gly109Arg])和c.1157A>G(p.[Asn368Ser]),并遗传给患儿致发病。结论 患儿出现先天性鱼鳞病、癫间发作、发育落后等表现时,需警惕Sjogren-Larsson综合征可能,完善基因检测有助于确诊,应尽早干预并评估预后。

Aim To investigate the clinical phenotype and gene characteristics of SjogrenLarsson syndrome.Methods The clinical manifestations and auxiliary examination results of a case of Sjogren-Larsson syndrome who was admitted to the department of neurology with epileptic onset were retrospectively analyzed,and the relevant literature was reviewed and discussed.Results The male patient,aged 1 year and 5 months,was admitted to hospital because of "convulsion once a day".After admission,obvious skin symptoms as dry skin around the body,rough skin touch on the limbs,local peeling,uneven distribution of skin pigment was found,together with psychomotor retardation.The head MRI and long range EEG showed no abnormalities.Chest radiographs showed right thoracolumbar deviation and curve kyphosis at the thoracolumbar junction.The whole exon gene sequencing of the pedigree indicated that there were pathogenic mutations in the ALDH3A2 gene of the children,and both the parents were heterozygous mutation carriers,carrying C.325G>A(P.[Gly109Arg]) and C.1157A>G(P.[Asn368Ser]),respectively,and inherited to the patient,causing the disease.Conclusion SjogrenLarsson syndrome should be kept on alert when congenital ichthyosis,epileptic seizures,developmental lag and other manifestations occur in children.Improved genetic testing is helpful for early diagnosis,intervention and prognosis assessment.