Chronic neuronopathic type of Gaucher's disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement

Gaucher's disease is a lysosomal storage disorder caused by the deficiency of glucocerebrosidase. Gaucher's disease has three clinical types: non-neuronopathic (Type 1), Acute Neuropathic (Type 2) and chronic neuronopathic (Type 3). The chronic neuronopathic (Type 3) is characterised by a variety of disease variants with onset in childhood with hepatomegaly, skeletal lesions and later slow horizontal saccades, treatment-resistant generalised tonic-clonic and myoclonic seizures, dementia, progressive spasticity, cognitive deterioration, ataxia and death in the second or third decade of life.