Search

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.