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.
PURPOSE:Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by a deficiency of glucocerebrosidase. The neurologic manifestations of GDpatients have to date been refractory to any treatment approach. We present a report of a neuronopathic GDpatient whose myoclonic epilepsy improved after combination therapy with imiglucerase and miglustat. METHODS: In an adult type 3 GDpatient 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.
Authors: S B Wortmann; D J Lefeber; G Dekomien; M A A P Willemsen; R A Wevers; E Morava Journal: J Inherit Metab Dis Date: 2009-11-04 Impact factor: 4.982
Authors: J Cox-Brinkman; M J van Breemen; B T van Maldegem; L Bour; W E Donker; C E M Hollak; F A Wijburg; J M F G Aerts Journal: J Inherit Metab Dis Date: 2008-10-15 Impact factor: 4.982
Authors: Raphael Schiffmann; Edmond J Fitzgibbon; Chris Harris; Catherine DeVile; Elin H Davies; Larry Abel; Ivo N van Schaik; William Benko; Margaret Timmons; Markus Ries; Ashok Vellodi Journal: Ann Neurol Date: 2008-11 Impact factor: 10.422