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

Authors :
Capablo JL
Franco R
de Cabezón AS
Alfonso P
Pocovi M
Giraldo P
Source :
Epilepsia [Epilepsia] 2007 Jul; Vol. 48 (7), pp. 1406-8. Date of Electronic Publication: 2007 Apr 13.
Publication Year :
2007

Abstract

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.<br />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.<br />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.<br />Conclusions: Combined imiglucerase and miglustat therapy may be beneficial for some neuronopathic forms of GD.

Details

Language :
English
ISSN :
0013-9580
Volume :
48
Issue :
7
Database :
MEDLINE
Journal :
Epilepsia
Publication Type :
Academic Journal
Accession number :
17433057
Full Text :
https://doi.org/10.1111/j.1528-1167.2007.01074.x