new variant mutation of glucosylceramidase beta (gba) and early enzyme replacement therapy for neuronopathic gaucher disease: a case report and literature review

Introduction: types 2 and 3 gaucher disease (gd) are neuronopathic forms that are mainly distinguished by the rate of neurological degeneration. all symptomatic children with type 1 or 3 gd should receive enzyme replacement therapy (ert), whereas the treatment of children with type 2 gd is usually supportive. case presentation: we present the case of a 3-month-old japanese girl diagnosed with neuronopathic gd. she initially presented with failure to thrive and inspiratory stridor. treatment using ert was initiated at 5 months of age. genetic analysis of glucosylceramidase beta (gba) revealed a compound heterozygous mutation including recncii and the novel missense mutation c.1052g > t (p.w351l). although several clinical improvements were observed, she showed rapid neurological deterioration at 8 months of age. conclusions: the patient with the compound heterozygous mutation including recncii and c.1052g > t (p.w351l) in gba presented with clinical symptoms consistent with those of type 2 gd. ert was initiated at 5 months of age; however, it failed to prevent refractory seizures and neurological deterioration.