Attiko University Hospital, University of Athens, 3rd Dept of Pediatrics, Haidari, Greece.
Eur J Paediatr Neurol. 2011 Sep;15(5):453-5. doi: 10.1016/j.ejpn.2011.04.004. Epub 2011 Jul 20.
A 4.5 years old male with myoclonic epilepsy on Valproic acid (VPA) monotherapy, developed an acute pancreatitis. The discontinuation of VPA and substitution with Levetiracetam was followed by clinical improvement but a relapse of the pancreatitis was noted one month later. The investigation excluded a structural abnormality but revealed a heterozygous CTFR mutation. The contribution of the CTFR mutation on this VPA-induced recurrent pancreatitis cannot be ignored.
一位 4.5 岁男性,患有肌阵挛性癫痫,服用丙戊酸钠(VPA)单药治疗,后出现急性胰腺炎。停用 VPA 并改用左乙拉西坦后临床症状改善,但一个月后胰腺炎复发。检查排除了结构异常,但发现 CTFR 突变杂合子。CTFR 突变对 VPA 诱导的复发性胰腺炎的影响不容忽视。