Assessment of phenotype and genotype in neuronal ceriod lipofuscinosis among Egyptian children

Abstract

Introduction Neuronal ceroid lipofuscinosis (NCLs) is a group of recessively inherited neurodegenerative disorder. It is a lysosomal storage disease caused by intracellular accumulation of autoflorescent lipofuscin pigments. The aim of this study is to compare the clinical, molecular genetics, neurophysiological, neuroradiological, and ultrastructural characteristics of NCLs among Egyptian patients with patients with the same disorder in other populations. Patients and methods Our cohort included 32 Egyptian NCL patients. There were 20 males and 12 females. Their ages ranged from 1.9 to 4.6 years, with a mean age of 3.5 years. Our clinically diagnosed cohort of NCLs was subjected to neurological, neurophysiological, neuroradiological, and ultrastructural studies as well as whole-exome sequencing (WES) to confirm the diagnosis. Results Our cases were compared with the clinical, neurophysiological, neuroradiological, and ultrastructural characteristics as well as molecular genetics of NCL patients worldwide. Our cases presented clinically with developmental delay, ataxia followed by seizures, and eventually a vegetative state. Their MRIs of the brain showed mainly cerebellar atrophy with or without cortical brain atrophy. Our results showed that the late infantile type of NCL is the most common clinical type among our Egyptian cases. WES showed that CLN6 is the most common mutated gene in our cohort. Discussion Our results were analyzed and compared with the characteristics of other patients with NCL worldwide. Conclusion Expanding the studies and research on NCL patients will further identify the diversity and the molecular genetics involved in the pathogenesis of this disorder. Subsequently, this will lead to potential identification of therapeutic and prenatal diagnostic methods and preventive measures.