Faculty for Medicine, University of Belgrade, Belgrade, Serbia.
Neurology Department, Institute for Mother and Child Healthcare of Serbia, Belgrade, Serbia.
Neurocase. 2021 Apr;27(2):165-168. doi: 10.1080/13554794.2021.1905852. Epub 2021 Apr 14.
Classic onset of CLN1 disease is within the first year of life with developmental arrest, epilepsy and rapid progression. In an atypical variant of CLN1 disease onset is later in the juvenile epoch. Although epilepsy in the juvenile form of CLN1 often is less severe than in typical CLN1, treatment of seizures and status epilepticus may be challenging.The clinical course, misdiagnosis and epilepsy phenotype are presented in a girl with juvenile CLN1. Cognitive and neurologic regression started at age 5.5 years. Epilepsy was a major clinical issue as the patient suffered from focal seizures, recurrent status epilepticus and epilepsia partialis continua. In one episode of refractory status epilepticus, the patient had significant bradycardia associated with the intravenous infusion of levetiracetam. Diagnosis was made at the age of 12 years, based on palmitoyl protein-thioesterase (PPT) enzyme deficiency and genetic testing that documented a homozygous exon missense mutation in the CLN1 gene (PPT1, c.541G>A, p.Val181Met).Epilepsy in all NCL patients is a major clinical issue and presumed related to neuronal excitation and epileptogenesis. The treatment of status epilepticus, in juvenile CLN1 patients, presents a particular challenge and requires monitoring of potential serious pharmacologic side effects of therapy.
经典型 CLN1 病的发病时间在生命的第一年，表现为发育停滞、癫痫和快速进展。在 CLN1 病的非典型变异型中，发病时间较晚，处于青少年时期。尽管青少年型 CLN1 中的癫痫通常比典型 CLN1 中的癫痫程度较轻，但治疗发作和癫痫持续状态可能具有挑战性。本文呈现了一名患有青少年型 CLN1 的女孩的临床病程、误诊和癫痫表型。认知和神经功能退化始于 5.5 岁。癫痫是一个主要的临床问题，因为患者患有局灶性发作、反复癫痫持续状态和部分性癫痫持续状态。在一次难治性癫痫持续状态发作中，患者出现明显心动过缓，与静脉输注左乙拉西坦有关。在 12 岁时根据棕榈酰蛋白硫酯酶（PPT）酶缺乏和基因突变（CLN1 基因exon 错义突变，c.541G>A，p.Val181Met）诊断为 CLN1 病。所有 NCL 患者的癫痫都是一个主要的临床问题，可能与神经元兴奋和癫痫发生有关。青少年 CLN1 患者癫痫持续状态的治疗是一个特别的挑战，需要监测治疗可能出现的严重药物不良反应。
