Gaucher’s disease is a rare autosomal recessive, potentially fatal disorder but most common type among lysosomal storage disorders. The disease’s incidence is around 1/40 000 to 1/60 000 births in the general population. A 32-year-old man, born out of non-consanguineous union, presented with generalised tonic–clonic seizures and myoclonus since 17 years of age. Seizures were noted to be resistant to multiple epileptic drugs. He developed gait imbalance, intentional tremor and dysarthria. Detailed examination revealed hepatosplenomegaly, bilateral pancerebellar signs with normal power, reflexes and sensory system. He had major cognitive impairment with impaired frontal and temporal lobar functions. Bone marrow evaluation revealed Gaucher cells, confirming the diagnosis.
- epilepsy and seizures
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Contributors RS: data collection, drafting of the manuscript and review of the literature. ASK: concept and revision of the manuscript. AC: drafting and revision of the manuscript. MKG: concept, drafting and revision of the manuscript.
Competing interests None declared.
Patient consent Guardian consent obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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