PURPOSE: Gaucher disease (GD) is an autosomal recessive lysosomal disorder 
caused by a deficiency of glucocerebrosidase. 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.