Steinfeld R
Zentrum Kinderheilkunde und Jugendmedizin, Pädiatrie II mit Schwerpunkt Neuropädiatrie, Georg-August-Universität Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany.
Ophthalmologe. 2010 Jul;107(7):616-20. doi: 10.1007/s00347-009-2109-8.
The neuronal ceroid lipofuscinoses (NCL) are a heterogeneous group of lysosomal diseases with rapidly progressive neurodegeneration and characteristic lipopigmentary lysosomal inclusions. The clinical picture is characterized by motor disturbances, developmental delay, behavioral abnormalities, epilepsy, loss of vision and dementia. Cranial MRI reveals global brain atrophy and in particular early atrophy of the cerebellum. If an NCL disease is suspected initial diagnostic assessment for the CLN1, CLN2, CLN3 and CLN10 subtypes is recommended. The investigations can be done with a dried blood spotted on filter paper. If the results are negative but an NCL disease is still suspected the further approach should be coordinated with an expert in the field. Possible other diagnostic examinations include electron microscopy of the storage material in lymphocytes and skin biopsy specimens or molecular genetic analysis of the suspected NCL gene. At present only symptomatic therapy is available for NCL diseases.
神经元蜡样脂褐质沉积症（NCL）是一组异质性的溶酶体疾病，具有快速进展的神经退行性变和特征性的脂色素溶酶体包涵体。临床表现以运动障碍、发育迟缓、行为异常、癫痫、视力丧失和痴呆为特征。头颅磁共振成像显示全脑萎缩，尤其是小脑早期萎缩。如果怀疑患有NCL疾病，建议对CLN1、CLN2、CLN3和CLN10亚型进行初步诊断评估。检查可通过滤纸干血斑进行。如果结果为阴性，但仍怀疑患有NCL疾病，则应与该领域的专家协调进一步的检查方法。其他可能的诊断检查包括淋巴细胞和皮肤活检标本中储存物质的电子显微镜检查或疑似NCL基因的分子遗传学分析。目前，NCL疾病仅能进行对症治疗。
