[以孤立视觉症状为表现的克雅氏病：海登海因变异型]
[Creutzfeldt - Jakob presenting with isolated visual symptoms: the Heidenhain variant].
作者信息
del Barrio-Manso I, Toribio-García A, Cordero-Coma M, Tuñón L, Baragaño E
机构信息
Servicio de Oftalmología, Hospital de Infanta Cristina, Parla, Madrid, España.
出版信息
Arch Soc Esp Oftalmol. 2010 Oct;85(10):341-4. doi: 10.1016/j.oftal.2010.09.014. Epub 2010 Nov 18.
CLINICAL CASE
We report the case of a 67 year old female complaining of decreased vision and diagnosed with the Heidenhain variant of sporadic Creutzfeldt-Jakob disease. Her past medical history was unremarkable. She died less than three months after the onset.
DISCUSSION
The Heidenhain variant of sporadic Creutfeld-Jakob disease should be suspected in patients suffering from early visual disturbances, unremarkable ophthalmic examination, and subsequent rapid decline of their cognitive function. A complete neurological exam including electroencephalogram recordings and magnetic resonance is mandatory. These patients share a common genotype (PRNP codon 129 MM) associated with a clinically typical disease course.
临床病例
我们报告一例67岁女性病例，该患者主诉视力下降，被诊断为散发性克雅氏病的海登海因变异型。她既往病史无异常。发病后不到三个月她就去世了。
讨论
对于早期出现视觉障碍、眼科检查无异常且随后认知功能迅速衰退的患者，应怀疑患有散发性克雅氏病的海登海因变异型。必须进行包括脑电图记录和磁共振成像在内的全面神经系统检查。这些患者具有与临床典型病程相关的共同基因型（PRNP密码子129 MM）。
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