A Novel Compound Heterozygous Mutation in the GALC gene in a Tunisian Family

Abstract

Krabbe disease (KD) is an autosomal recessive neurodegenerative disorder caused by mutations in the galactocerebrosidase ( GALC ) gene, which is responsible for the production of the GALC enzyme [1]. Early infantile Krabbe disease (EIKD), which presents before 6 months of age, is the most prevalent, accounting for 85% to 90% of cases [1]. Although numerous mutations in the GALC gene have been identified, new mutations continue to be discovered. In this report, we describe three siblings who exhibited atypical clinical features of EIKD associated with a novel compound heterozygous mutation. Consent for this study was obtained from the family. The three cases were born at term to non-consanguineous Tunisian parents after an uneventful pregnancy. The first sibling (IV11) was a 7-month-old girl (Fig. 1A). She was brought to our Neurology Department, at this age, for delayed milestones and spasms. She was brought to our Neurology Department at this age due to delayed milestones and spasms. Her