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[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.

Abstract

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.

摘要

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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