Neppert B, Kemper B
Augenklinik der Medizinischen Universität zu Lübeck.
Klin Monbl Augenheilkd. 1998 Dec;213(6):362-6. doi: 10.1055/s-2008-1035004.
The neuronal ceroid-lipofuscinosis (NCL) belongs to progressive neurodegenerative disorders of childhood with both ophthalmologic and neurologic symptoms. In the most common type in Germany, the juvenile type, the ophthalmological examination is essential for an early diagnosis.
A 5-year-old boy had exhibited a loss of visual acuity, visual field and colour perception in his pre-school age. His clinical features and electrophysiologic data are presented. The final diagnostic clues were drawn from the neuropediatric and cytologic examinations.
This patient shows the typical clinical feature of the juvenile NCL with a relatively rapid visual loss with bull's eye maculopathy in the pre-school- to early school age. His electroretinogram was abolished, and his EEG showed pathologic results. The diagnosis could be established by electron microscopy of his lymphocytes. Epilepsy and intellectual defects are expected to set in only few years later.
Although there is no therapy, the ophthalmologist should be aware of this rare entity because prognostic counselling, social help and perhaps genetic counselling could be offered to the families. In many cases, a prenatal diagnosis is possible.
神经元蜡样脂褐质沉积症（NCL）属于儿童期进行性神经退行性疾病，具有眼科和神经科症状。在德国最常见的类型即青少年型中，眼科检查对早期诊断至关重要。
一名5岁男孩在学龄前出现视力、视野和色觉丧失。呈现了其临床特征和电生理数据。最终诊断线索来自神经儿科和细胞学检查。
该患者表现出青少年NCL的典型临床特征，在学龄前至学龄早期视力相对快速丧失并伴有黄斑病变。他的视网膜电图消失，脑电图显示病理结果。通过对其淋巴细胞进行电子显微镜检查得以确诊。预计几年后会出现癫痫和智力缺陷。
尽管尚无治疗方法，但眼科医生应了解这种罕见疾病，因为可为家庭提供预后咨询、社会帮助或许还有遗传咨询。在许多情况下，可以进行产前诊断。
