Jongen P J, Gabreëls F J, Stekhoven J H, Renier W O, le Coultre R, Begeer J H
Department of Child Neurology, University Hospital Nijmegen, The Netherlands.
Clin Neurol Neurosurg. 1987;89(3):161-7. doi: 10.1016/s0303-8467(87)80049-5.
In this paper four Dutch cases of early infantile neuronal ceroid lipofuscinosis (NCL) are described, all being boys. NCL is a group of diseases morphologically characterized by accumulation of autofluorescent ceroid lipofuscin-like pigment. Psychomotor deterioration, impairment of vision, and epileptic manifestations are the major clinical features. Onset in early infantile age is rare. We reviewed 71 cases reported in the literature, and compared the symptoms and signs with the findings in our patients. Psychomotor deterioration, visual impairment and myoclonic jerks are often observed early in the disease. Eventually, every patient shows psychomotor deterioration. The outcome is always lethal, usually within a few years. Special attention is paid to diagnostic procedures.
本文描述了4例荷兰早期婴儿神经元蜡样脂褐质沉积病（NCL）病例，均为男孩。NCL是一组疾病，其形态学特征为自体荧光性蜡样脂褐质样色素的蓄积。精神运动发育迟缓、视力损害和癫痫表现是主要临床特征。发病于婴儿早期的情况较为罕见。我们回顾了文献中报道的71例病例，并将症状和体征与我们患者的检查结果进行了比较。精神运动发育迟缓、视力损害和肌阵挛抽搐在疾病早期常可观察到。最终，每个患者都会出现精神运动发育迟缓。结局总是致命的，通常在几年内。文中对诊断程序给予了特别关注。
