Berkovic S F, Carpenter S, Andermann F, Andermann E, Wolfe L S
Montreal Neurological Institute, Quebec, Canada.
Brain. 1988 Feb;111 ( Pt 1):27-62. doi: 10.1093/brain/111.1.27.
A review of 118 cases published as Kufs' disease revealed only 50 cases, including 2 patients described herein, that fulfilled our criteria for this diagnosis. Of the other 68 cases, 16 had inadequate data for analysis, 21 had evidence of a storage disease other than Kufs' disease, 10 did not have clear evidence of any neuronal storage, and 21 had atypical clinical features considered outside the spectrum of Kufs' disease. The 50 cases accepted as Kufs' disease comprised two clinical phenotypes; progressive myoclonus epilepsy (Type A) and dementia with motor disturbances (Type B). Marked photosensitivity was a striking feature of some Type A cases, and facial dyskinesias were common amongst Type B patients. Onset was typically at around the age of 30 years. A few cases began in adolescence; these differ from the protracted juvenile form of neuronal ceroid-lipofuscinosis by the absence of visual failure. Demonstration of fingerprint profiles or granular osmiophilic deposits by electron microscopy is mandatory for definitive diagnosis. Urinary sediment dolichol levels were markedly elevated in our 2 cases. This biochemical finding confirms the relationship of Kufs' disease to the early forms of neuronal ceroid-lipofuscinosis and is consistent with our hypothesis that these diseases are due to defects in the intracellular processing of lysosomal and related membranes.
对118例已发表的被诊断为库夫斯病的病例进行回顾后发现，只有50例（包括本文所述的2例患者）符合我们对该诊断的标准。在其他68例病例中，16例数据不足无法进行分析，21例有证据表明患有除库夫斯病之外的贮积病，10例没有明确的神经元贮积证据，21例具有被认为超出库夫斯病范畴的非典型临床特征。被确认为库夫斯病的50例病例包括两种临床表型：进行性肌阵挛癫痫（A型）和伴有运动障碍的痴呆（B型）。显著的光敏感性是一些A型病例的突出特征，而面部运动障碍在B型患者中很常见。发病通常在30岁左右。少数病例始于青春期；这些病例与神经元蜡样脂褐质沉积症的慢性青少年型不同，其没有视力减退。通过电子显微镜显示指纹图谱或嗜锇颗粒沉积是确诊的必要条件。我们的2例患者尿沉渣中多萜醇水平显著升高。这一生化发现证实了库夫斯病与早期神经元蜡样脂褐质沉积症的关系，并且与我们的假设一致，即这些疾病是由于溶酶体及相关膜的细胞内加工缺陷所致。
