Gaucher Disease Insights

In a recent case report by Householder et al. (2025), a toddler with acute respiratory failure was diagnosed with Gaucher disease, a genetic disorder. The 22-month-old showed symptoms like cyanosis and stridor, which escalated to severe respiratory distress. The team used a multidisciplinary approach, including rapid whole-genome sequencing, which revealed a compound heterozygote mutation in the GBA1 gene. This included a known pathogenic variant from the mother and a new likely pathogenic variant from the father. The diagnosis was confirmed with low leukocyte acid β-glucosidase activity, and the child received enzyme replacement therapy. Despite recovery, the patient later suffered from severe bulbar dysfunction and died from a suspected aspiration event. This case underscores the importance of considering genetic disorders in acute respiratory conditions and the effectiveness of rapid genetic testing in diagnosis and treatment.

The findings are significant as they present a new genetic variant linked to Gaucher disease and demonstrate a unique clinical presentation. The case emphasizes the critical role of a quick, comprehensive diagnostic process in managing rare diseases, which can lead to timely and potentially life-saving treatments.