title: Chronic neuronopathic type of Gaucher's disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement.
abstract: BACKGROUND
  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.
  
  
  METHODS
  We describe a case of a 17-year-old girl who was born normally but subsequently developed treatment-refractory seizures at the age of nine with myoclonus, oculomotor apraxia, ataxia and cognitive decline. Enzyme activity of beta-glucocerebrosidase was found to be low without visceromegaly or bone involvement.
  
  
  CONCLUSIONS
  Screening for lysosomal enzyme activity should be done in patients exhibiting features suggestive of progressive myoclonic epilepsy.
authors.affiliation: Consultant Physician and Lecturer, Clinical School Johor Bahru, Jeffrey Cheah School of Medicine and Health Sciences, Monash University, Johor Bahru, Johor, Malaysia.
authors.forename: Nevein Philip
authors.initials: NP
authors.lastname: Botross
authors.forename: Amgad Abadir
authors.initials: AA
authors.lastname: Riad
authors.forename: Shanthi
authors.initials: S
authors.lastname: Viswanathan
authors.forename: Rusli Bin
authors.initials: RB
authors.lastname: Nordin
authors.forename: H N
authors.initials: HN
authors.lastname: Lock
mesh_terms: D000293:Adolescent; D001072:Apraxias / Q000175:diagnosis* / Q000503:physiopathology; D001259:Ataxia / Q000175:diagnosis* / Q000503:physiopathology; D003072:Cognition Disorders / Q000201:enzymology / Q000209:etiology / Q000503:physiopathology*; D018450:Disease Progression; D005260:Female; D059907:Functional Neuroimaging; D005776:Gaucher Disease / Q000175:diagnosis* / Q000201:enzymology / Q000503:physiopathology; D005962:Glucosylceramidase / Q000378:metabolism*; D006801:Humans; D020191:Myoclonic Epilepsies, Progressive / Q000175:diagnosis* / Q000201:enzymology / Q000503:physiopathology
chemical_list: D005962:Glucosylceramidase
keywords: Gaucher’s disease; beta-glucocerebrosidase; lysosomal storage disorder