Espitia Segura O M, Hernández Z, Mancilla N I, Naranjo R A, Tavera L
Fundación Hospital Pediátrico la Misericordia (HOMI), Bogotá, Colombia.
Universidad del Rosario, Bogotá, Colombia.
Mol Genet Metab Rep. 2021 Feb 3;27:100718. doi: 10.1016/j.ymgmr.2021.100718. eCollection 2021 Jun.
Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/ gene, with secondary enzyme deficiency. In classical phenotypes, initial symptoms include seizures and delayed language development between 2 and 4 years of age. This article describes the presentation of CLN2 disease in a cohort of Colombian patients, as well as the impact of treatment on the course and progression of the disease.
Case series report of 8 patients with a confirmed diagnosis of neuronal ceroid lipofuscinosis treated with cerliponase alfa who remained on clinical and paraclinical follow-up for up to 24 months before and after treatment.
An atypical phenotype, associated with initial symptoms and late diagnosis, was present in 5/8 patients. The most frequent symptoms were seizures and developmental delay, with age of onset at 24 months (classical phenotype) and 48 months (atypical phenotype). A novel mutation (c.1438G > A) was found in two siblings. All of the patients received cerliponase alfa, and there were no serious adverse events. No decline in the clinical status greater than 2 points on Hamburg, Weill Cornell and CNL2 clinical assessment scale was observed during follow-up after treatment initiation.
This is the first case series reported for neuronal ceroid lipofuscinosis patients in Colombia. In contrast with other reports, the majority of cases reported here displayed an atypical phenotype. Our study highlights the importance of early diagnosis and timely initiation of therapy, which is a feasible therapy, well tolerated by patients and accepted by caregivers in this country, generating a positive impact in the quality of life of CLN2 patients and on disease outcome.
晚发性婴儿神经元蜡样脂褐质沉积症是一种常染色体隐性疾病，由CLN2基因的突变引起，并伴有继发性酶缺乏。在典型的表型中，初始症状包括癫痫发作以及2至4岁之间语言发育迟缓。本文描述了一组哥伦比亚患者中CLN2疾病的表现，以及治疗对该疾病进程和进展的影响。
对8例确诊为神经元蜡样脂褐质沉积症的患者进行病例系列报告，这些患者接受了阿法西普酶治疗，并在治疗前后进行了长达24个月的临床和辅助临床随访。
5/8的患者存在与初始症状和晚期诊断相关的非典型表型。最常见的症状是癫痫发作和发育迟缓，发病年龄分别为24个月（典型表型）和48个月（非典型表型）。在两名兄弟姐妹中发现了一种新的突变（c.1438G>A）。所有患者均接受了阿法西普酶治疗，且未出现严重不良事件。在开始治疗后的随访期间，未观察到汉堡、威尔康奈尔和CNL2临床评估量表上的临床状态下降超过2分。
这是哥伦比亚首次报道的神经元蜡样脂褐质沉积症患者病例系列。与其他报告不同，这里报告的大多数病例表现为非典型表型。我们的研究强调了早期诊断和及时开始治疗的重要性，这是一种可行的治疗方法，患者耐受性良好，并且在该国得到了护理人员的认可，对CLN2患者的生活质量和疾病转归产生了积极影响。
