Resumo

MUGNAINI, Julia et al. Juvenile form of Sandhoff disease: first case reported in Argentina. Arch. argent. pediatr. [online]. 2017, vol.115, n.5, pp.e298-e301. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2017.e298.

Sandhoff disease is a neurodegenerative, lysosomal and autosomal recessive disease caused by mutations in the HEXB gene. Three forms are recognized: infantile, juvenile and adult. Previously, an endogamous population in Córdoba, Argentina, was identified with a high incidence of Sandhoff disease, all reported cases were of the infantile type. In this work, we describe a child with the juvenile form of Sandhoff disease, the first case reported in Argentina. The patient is a 7-year-old boy presenting with ataxia, speech disturbances and global developmental delay, symptoms starting at the age of 2 years. Diagnosis was based on the hexosaminidase deficiency. Sequencing of genomic DNA revealed compound heterozygosity for two HEXB gene mutations: c.796T>G (p.Y266D) and c.1615C>T (p.R539C), both already reported.

Palavras-chave : GM2 gangliosidoses; Juvenile Sandhoff disease; HEXB gene.

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