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BMJ Case Rep. 2010; 2010: bcr0120102653.
Published online Nov 5, 2010. doi:  10.1136/bcr.01.2010.2653
PMCID: PMC3030305
Rare disease
Role of levetiracetam in refractory seizures due to a rare progressive myoclonic epilepsy: Lafora body disease
Mubashira Hashmi,1 Feroza Saleem,2 Muhammad Shahid Mustafa,1 Mughis Sheerani,1 Zeeshan Ehtesham,3 and Khurram Siddiqui4
1Department of Neurology, Aga Khan University Hospital, Karachi, Pakistan
2Department of Neurology, Liaquat National Hospital, Karachi, Pakistan
3Department of Pathology, Aga Khan University Hospital, Karachi, Pakistan
4Department of Neurology, King Fahad Medical City, Riyadh, Saudi Arabia
Correspondence to Mubashira Hashmi, dr_mhashmi/at/hotmail.com
Abstract
Lafora disease is one of the rare, most fatal progressive myoclonic epilepsies reported. We present a case of a teenager with intractable seizures and progressive mental decline, diagnosed as Lafora body disease on axillary skin biopsy. He was admitted with status epilepticus with refractory myoclonic and generalised tonic clonic seizures. Despite on maximum doses of multiple antiepileptic drugs and infusions of propofol and midazolam, his seizures were refractory to all forms of medical therapy tried. Levetiracetam (LEV), a pyrrolidine derivative, was introduced; he showed a prompt response and was weaned off successfully from infusions of anticonvulsants and mechanical ventilation within 48 h of introduction of LEV, followed by an almost seizure-free status.
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