A carrier of pathogenic variant of SLC10A1 gene presenting transient infantile hypercholanemia and cholestasis
LI Xiao-wei, DENG mei, QIU Jian-wu, et al
LI Rong-ye1, WANG Zhu1,DU Lan-lan1, YANG Yang1, ZHANG Wei2, TANG Wen3, YANG Jie1 (1.Neonatology, Guangdong Women and Children Hospital, Guangdong, Guangzhou 510000, China; 2.AmCare Genomics Laboratory, Guangdong, Guangzhou 510000, China; 3. Pediatric Intensive Care Unit, The First Affiliated Hospital, Sun Yat-sen University, Guangdong, Guangzhou 510000, China)
Abstract: Objective To investigate the clinical characteristics and genetic test results of neonatal spasm induced by Na+ channel gene SCN2A mutation, and to provide reference for clinical practice. Methods A newborn baby girl with spasm induced by SCN2A mutation was received in Guangdong Women and Children Hospital in May 2016. The genes of baby and her parents were detected by high-throughput assay. The clinical features, examinations, gene detection were retrospectively analyzed and relevant literatures were reviewed. Results On the 13th day of the neonate, the infant started with transient choreography, which relieved on its own, and the seizures were dozens of times per day. Electrolyte suggested moderate decrease of blood sodium and the electroencephalogram (EEG) presented a burst-suppression pattern. After the therapy of phenobarbital, levetiracetam and valproate successively, there were no effect. Gene detection suggested that the gene SCN2A mutation, c.1261T>G (p.Leu421Val) occured in the infant, but the parents did not carry the mutation. Oxcarbazepine and ketogenic diet prepared for her, seizures decreased and disappeared gradually 2 weeks later, the EEG was better than before. Follow up to 1.5 years old, the patient still accompanied by severe growth and psychomotor retardation. Conclusion For the infants who have no definite diagnosis for the causes of spasm, the gene detection should be perfected as soon as possible and the accurate medication should be practiced based on the pathogenesis
李荣业 王柱 杜岚岚 等. Na+通道基因SCN2A变异致新生儿抽搐一例及文献复习[J]. 发育医学电子杂志, 2018, 6(1): 50-54.
LI Xiao-wei, DENG mei, QIU Jian-wu, et al. A carrier of pathogenic variant of SLC10A1 gene presenting transient infantile hypercholanemia and cholestasis. Journal of Developmental Medicine(Electronic Version), 2018, 6(1): 50-54.
2018, Vol. 6 
