Consultant Physician and Lecturer, Clinical School Johor Bahru, Jeffrey Cheah School of Medicine and Health Sciences, Monash University, Johor Bahru, Johor, Malaysia.
Scott Med J. 2014 May;59(2):e1-6. doi: 10.1177/0036933014529868. Epub 2014 Mar 26.
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.
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.
Screening for lysosomal enzyme activity should be done in patients exhibiting features suggestive of progressive myoclonic epilepsy.
戈谢病是一种溶酶体贮积病，由葡糖脑苷脂酶缺乏引起。戈谢病有三种临床类型：非神经病变型（Ⅰ型）、急性神经病变型（Ⅱ型）和慢性神经病变型（Ⅲ型）。慢性神经病变型（Ⅲ型）的特征是多种疾病变异型，在儿童时期发病，伴有肝肿大、骨骼病变，随后出现缓慢的水平眼球运动、对抗治疗的全身性强直阵挛和肌阵挛发作、痴呆、进行性痉挛、认知能力下降、共济失调，最终在生命的第二或第三个十年死亡。
我们描述了一例 17 岁女孩的病例，她出生正常，但随后在 9 岁时出现治疗抵抗性癫痫发作，伴有肌阵挛、眼球运动不能、共济失调和认知能力下降。β-葡糖脑苷脂酶的酶活性低，无内脏肿大或骨骼受累。
对于表现出进行性肌阵挛性癫痫特征的患者，应进行溶酶体酶活性筛查。
