Unraveling Neuronal Ceroid Lipofuscinosis: Insights From Two Pediatric Cases in Peripheral India

Abstract

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.