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The Causes of Epilepsy The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
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Chapter 21 - Sialidosis and Gaucher disease

from Section 3 - Symptomatic epilepsy

Published online by Cambridge University Press:  05 March 2012

Simon D. Shorvon
Affiliation:
National Hospital for Neurology and Neurosurgery, London
Frederick Andermann
Affiliation:
Montreal Neurological Hospital and Institute
Renzo Guerrini
Affiliation:
Child Neurology Unit, Meyer Pediatric Hospital, Florence
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Summary

This chapter presents the pathophysiology, prognosis, diagnostic tests for sialidosis and Gaucher disease (GD). The epileptic phenotype resulting from sialidoses and from the subtypes of GD presents with myoclonus and generalized seizures and belongs to the category of progressive myoclonus epilepsies (PMEs). Sialidoses are classified in two types presenting with different phenotypes. In both types of sialidosis, electrophysiological studies performed at onset of seizure or myoclonus show paroxysmal electroencephalographic (EEG) activity, which can either present as polyspike-waves or as fast activities. The positive diagnosis can be based on the determination of very low blood glucocerebrosidase enzyme activity. A proposed treatment is substrate reduction therapy (SRT), which is based on chronic oral administration of an inhibitor of the biosynthesis of glucosylceramide and higher glycosphingolipids (miglustat), This inhibitor can cross the blood-brain barrier and might help reducing central nervous system complications in some GD patients.
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The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
, pp. 164 - 168
Publisher: Cambridge University Press
Print publication year: 2011

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