Singh Rajveer, Choudhary Aditya, Kumar Amith S, Goyal Manoj Kumar
Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
BMJ Case Rep. 2017 Dec 13;2017:bcr-2017-222304. doi: 10.1136/bcr-2017-222304.
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.
戈谢病是一种罕见的常染色体隐性、潜在致命性疾病，但却是溶酶体贮积症中最常见的类型。在普通人群中，该疾病的发病率约为每40000至60000例出生中有1例。一名32岁男性，非近亲结婚出生，自17岁起出现全身性强直阵挛发作和肌阵挛。发作被发现对多种抗癫痫药物耐药。他出现步态失衡、意向性震颤和构音障碍。详细检查发现肝脾肿大、双侧小脑体征，肌力、反射和感觉系统正常。他有严重的认知障碍，额叶和颞叶功能受损。骨髓评估发现了戈谢细胞，确诊了该疾病。
