Clinical Case Reports

Biography

Biography: Spyridon Bekas

Abstract

Neuronal Ceroid Lipofuscinoses (NCLs) represent a group of neurodegenerative lysosomal storage diseases also known as Batten Disease. Batten Disease is hereditary and follows mainly autosomal recessive pattern of inheritance, affecting predominantly children. Some early to late adulthood forms which follow autosomal dominant pattern of inheritance have been reported. All the forms which are comprised in the group have similar progression and outcome. Each clinical phenotype differs on the age of onset and the specific lysosomal storage protein encoding gene mutation. Some of the typical disease phenotypes have been described and linked to a specific mutated gene. However, there are subtypes with variable disease onset, progression and outcome which do not have a known gene association. Several common clinical traits include; visual failure, epileptic seizures, dysarthria, ataxia, progressive psychomotor decline and death by the second to third decade of life. Here, we report the first documented case of Batten Disease in Cyprus: a 25-year old male diagnosed with the “Variant Late Infantile-onset”. The identified mutated gene is CLN6 which is located on chromosome 15 encoding for the TPP1 transmembrane protein. The parents went under genetic testing in order to identify the mutated gene and appear that only the mother is a carrier of CLN6 gene mutation. The age of onset of CLN6 is highly variable. Early feature of the specific type is epileptic seizures. Due to the variability of clinical features of Batten Disease, the diagnosis and the classification of the subtype is considered challenging. This variability might indicate how vulnerable different neuronal populations are.