Tobo M, Mitsuyama Y, Ikari K, Itoi K
Arch Neurol. 1984 Oct;41(10):1091-4. doi: 10.1001/archneur.1984.04050210089022.
The adult type of neuronal ceroid lipofuscinosis (NCL) occurred in a 49-year-old man and his 51-year-old sister. They showed episodic stuporous and psychotic states, mental retardation, generalized convulsions, and ichthyosis vulgaris. At autopsy the woman had excessive accumulation of lipofuscin throughout the CNS. The degree of neuronal lipopigment accumulation was very severe in the neurons of the thalamus, substantia nigra, inferior olivary nuclei, motor nuclei of the brain stem, and cerebral cortex. Mental symptoms, such as stupor, excitement, hallucinations, and delusions, were the predominant clinical manifestations and so were misdiagnosed as schizophrenia. Though the clinical diagnosis of the adult type of NCL (Kufs' disease) is difficult because of its wide variety of manifestations, symptoms such as episodic psychotic and stuporous states accompanied by convulsive disorders with mild neurologic signs may be an indication of this disease.
成人型神经元蜡样脂褐质沉积症（NCL）发生在一名49岁男性及其51岁的姐姐身上。他们表现出发作性昏迷和精神状态、智力发育迟缓、全身性惊厥以及寻常型鱼鳞病。尸检时，该女性中枢神经系统各处均有脂褐质过度蓄积。丘脑、黑质、下橄榄核、脑干运动核以及大脑皮质的神经元中脂色素蓄积程度非常严重。精神症状，如昏迷、兴奋、幻觉和妄想，是主要临床表现，因此被误诊为精神分裂症。尽管成人型NCL（库夫斯病）由于其表现形式多样而临床诊断困难，但发作性精神病性和昏迷状态伴有惊厥障碍及轻度神经体征等症状可能提示该病。
