P405: A new case of fucosidosis with a novel homozygous pathogenic variant and a 17.2 Mb region of homozygosity

Currently, there is no approved enzyme replacement therapy. Hematopoietic cell transplant (HCT) performed prior to clinical findings has been shown to delay the onset and reduce the severity of the disease, while HCT performed after symptom onset is not effective. The patient was discharged and continues to receive multidisciplinary supportive care at a rehabilitation facility, focusing on physical therapy to manage muscle spasticity, nutritional support, and regular monitoring for disease progression.