Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination

Purpose: Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by a deficiency of gluco-cerebrosidase. The neurologic manifestations of GD patients have to date been refractory to any treatment approach. We present a report of a neuronopathic GD patient whose myoclonic epilepsy improved after combination therapy with imiglucerase and miglustat. Methods: In an adult type 3 GD patient who, despite good visceral and analytic response to ERT, developed progressive neurologic deterioration with marked myoclonic epilepsy and dystonia, we added miglustat to the enzyme-replacement therapy. Results: After 2 years of combined miglustat (200 mg, 3 t.i.d.) and imiglucerase (60 IU/kg every 2 weeks), generalized tonic-clonic seizures decreased, speech improved, and the general neurologic clinical picture improved markedly. The EEG showed a reduction in focal and generalized paroxysmal discharges. No significant adverse effects were observed. Conclusions: Combined imiglucerase and miglustat therapy may be beneficial for some neuronopathic forms of GD.