Aman Nadir, Panapil Aishwarya Gurudath, Utage Prashant
Department of Clinical Genetics, Utage Child Development Centre, Hyderabad, Telangana, India.
Department of Genomics, Strand Life Sciences, Bangalore, Karnataka, India.
J Child Neurol. 2025 Jun 22:8830738251346920. doi: 10.1177/08830738251346920.
Neuronal ceroid lipofuscinoses are rare, inherited lysosomal storage disorders characterized by progressive neurodegeneration due to aberrant lysosomal function. This study presents 2 cases of CLN7 and CLN8, illustrating the genetic and clinical heterogeneity of neuronal ceroid lipofuscinoses. The first case involves a patient with CLN7, manifesting developmental regression, epilepsy, and motor impairment. The second case presents CLN8, marked by progressive cognitive decline, intractable seizures, and motor dysfunction. Whole exome sequencing confirmed pathogenic mutations in both cases, reinforcing the critical role of genetic diagnostics in precise disease classification. These cases emphasize the necessity of early genetic screening for timely intervention and accurate neuronal ceroid lipofuscinosis subtype classification, which is vital for prognosis and personalized management. Multidisciplinary care, including genetic counseling, neurologic assessment, and supportive therapies, is paramount in optimizing patient outcomes. Documenting these cases contributes to a deeper understanding of neuronal ceroid lipofuscinosis phenotypic variability, supporting ongoing research into genotype-phenotype correlations and potential disease-modifying therapies.
神经元蜡样脂褐质沉积症是罕见的遗传性溶酶体贮积病，其特征是由于溶酶体功能异常导致进行性神经退行性变。本研究报告了2例CLN7和CLN8病例，阐明了神经元蜡样脂褐质沉积症的遗传和临床异质性。第一例为CLN7患者，表现为发育倒退、癫痫和运动障碍。第二例为CLN8，以进行性认知衰退、难治性癫痫和运动功能障碍为特征。全外显子测序证实了两例均存在致病突变，强化了基因诊断在精确疾病分类中的关键作用。这些病例强调了早期基因筛查对于及时干预和准确的神经元蜡样脂褐质沉积症亚型分类的必要性，这对预后和个性化管理至关重要。多学科护理，包括遗传咨询、神经学评估和支持性治疗，对于优化患者预后至关重要。记录这些病例有助于更深入地了解神经元蜡样脂褐质沉积症的表型变异性，支持正在进行的关于基因型-表型相关性和潜在疾病修饰疗法的研究。
