Department of Neurology, Medical University of Warsaw, Warszawa, Poland.
Neurol Neurochir Pol. 2013 Jan-Feb;47(1):86-9. doi: 10.5114/ninp.2012.31548.
Niemann-Pick disease type C is a rare hereditary disorder caused by mutation-disrupted metabolism of cholesterol and low-density lipoprotein (LDL). In most patients, symptoms begin in childhood with severe clinical progression. We present a patient with heterozygote mutations 3001A>G and 3019C>G with late onset of the disease and positive response to treatment with miglustat. Behaviour and educational problems in childhood were probably related to the disease diagnosed later.
尼曼-匹克病 C 型是一种罕见的遗传性疾病，由胆固醇和低密度脂蛋白（LDL）代谢的突变引起。在大多数患者中，症状在儿童期开始出现，并伴有严重的临床进展。我们介绍了一位患者，其携带杂合突变 3001A>G 和 3019C>G，疾病发病较晚，对米格列醇治疗有积极反应。儿童期的行为和教育问题可能与后来诊断的疾病有关。
