Hashmi Mubashira, Saleem Feroza, Mustafa Muhammad Shahid, Sheerani Mughis, Ehtesham Zeeshan, Siddiqui Khurram
Department of Neurology, Aga Khan University Hospital, Karachi, Pakistan.
BMJ Case Rep. 2010 Nov 5;2010:bcr0120102653. doi: 10.1136/bcr.01.2010.2653.
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.
拉福拉病是所报道的罕见且最致命的进行性肌阵挛癫痫之一。我们报告一例青少年病例，该患者有难治性癫痫发作和进行性智力衰退，经腋窝皮肤活检诊断为拉福拉小体病。他因癫痫持续状态入院，伴有难治性肌阵挛和全身性强直阵挛发作。尽管使用了多种抗癫痫药物的最大剂量，并输注了丙泊酚和咪达唑仑，但他对所有尝试过的药物治疗形式均难治。引入了吡咯烷衍生物左乙拉西坦（LEV）；他迅速出现反应，并在引入LEV后的48小时内成功停用了抗惊厥药物输注和机械通气，随后几乎无癫痫发作。
