Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination.
OBJECTIVE
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.
Capablo
Jose L
JL
Department of Neurology, Miguel Servet University Hospital, Zaragoza, Spain.
Franco
Rafael
R
de Cabezón
Alicia Sáenz
AS
Alfonso
Pilar
P
Pocovi
Miguel
M
Giraldo
Pilar
P
D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives* / Q000627:therapeutic use; D000328:Adult; D015897:Comorbidity; D018450:Disease Progression; D004334:Drug Administration Schedule; D004359:Drug Therapy, Combination; D004421:Dystonia / Q000188:drug therapy / Q000453:epidemiology; D004569:Electroencephalography / Q000187:drug effects / Q000706:statistics & numerical data; D004791:Enzyme Inhibitors / Q000627:therapeutic use*; D004831:Epilepsies, Myoclonic / Q000188:drug therapy / Q000453:epidemiology; D005776:Gaucher Disease / Q000175:diagnosis / Q000188:drug therapy* / Q000453:epidemiology; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000453:epidemiology; D011994:Recombinant Proteins / Q000627:therapeutic use; D013577:Syndrome; D016896:Treatment Outcome
D004791:Enzyme Inhibitors; D011994:Recombinant Proteins; D017485:1-Deoxynojirimycin; C059896:miglustat; D005962:Glucosylceramidase; C090568:imiglucerase