In:
Scottish Medical Journal, SAGE Publications, Vol. 59, No. 2 ( 2014-05), p. e1-e6
Abstract:
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. Case presentation 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. Conclusion Screening for lysosomal enzyme activity should be done in patients exhibiting features suggestive of progressive myoclonic epilepsy.
Type of Medium:
Online Resource
ISSN:
0036-9330
,
2045-6441
DOI:
10.1177/0036933014529868
Language:
English
Publisher:
SAGE Publications
Publication Date:
2014
detail.hit.zdb_id:
2141765-9