AI Article Synopsis
- Sandhoff disease is a rare neurodegenerative disorder caused by mutations in the HEXB gene, presenting in three forms: infantile, juvenile, and adult.
- In Córdoba, Argentina, a previously identified population showed a high incidence of the infantile form, but a recent case describes a 7-year-old boy diagnosed with the juvenile form, which is the first reported in Argentina.
- The child's symptoms included ataxia and speech issues starting at age 2, and genetic testing confirmed two known mutations in the HEXB gene associated with the disease.
Article Abstract
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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.5546/aap.2017.e298 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!