Background: The neuronal ceroid lipofuscinoses (NCL) constitute a group of gray matter neurodegenerative disorders characterized by the accumulation of ceroid lipopigment in lysosomes in neurons and other cell types. There are very few published studies on NCL from India, especially in children. Methods: A retrospective study of confirmed patients of NCL diagnosed over a period of 10 years from January 2019 to December 2019. Results: Fifty children had a definitive diagnosis of NCL based on enzymatic studies or genetic testing using next-generation sequencing. Around 15 children were diagnosed to have CLN-1 (ceroid lipofuscinoses, neuronal-1) based on palmitoyl protein thioesterase-1 deficiency; 24 children were diagnosed with CLN2 (ceroid lipofuscinoses, neuronal-2) based on deficient tripeptidyl-peptidase-1 activity; three patients were diagnosed as CLN6, five patients as CLN7, one case each of CLN8, CLN11, and CLN14 based on genetic testing. Clinical presentation was quite varied and included refractory seizures, developmental delay/regression, and abnormal movements. Visual failure was not common in the present case series. Neuroimaging patterns in different types of NCL were different. All children had a progressive downhill course resulting in death in many over a period of 5–10 years of disease onset. Conclusion: NCL is not uncommon and diagnosis can be suspected based on clinical investigations and neuroimaging findings. Diagnosis can be confirmed by enzymatic assays or genetic testing.


中文翻译：

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儿童神经元蜡样脂褐质沉积症


背景：神经元蜡样脂褐质病 (NCL) 构成一组灰质神经退行性疾病，其特征是神经元和其他细胞类型的溶酶体中蜡样脂色素的积累。印度发表的关于 NCL 的研究很少，尤其是在儿童方面。方法：对 2019 年 1 月至 2019 年 12 月 10 年间确诊的 NCL 确诊患者进行回顾性研究。结果：根据酶学研究或使用下一代测序的基因检测，50 名儿童被确诊为 NCL。大约 15 名儿童根据棕榈酰蛋白硫酯酶 1 缺乏症被诊断患有 CLN-1（蜡样脂褐质病，神经元 1）；24 名儿童根据三肽基肽酶 1 活性不足被诊断为 CLN2（蜡样脂褐质病，神经元 2）；CLN6 3 例，CLN7 5 例，CLN8、CLN11、CLN14 各1 例。临床表现多种多样，包括顽固性癫痫发作、发育迟缓/退化和异常运动。在本案例系列中，视觉失败并不常见。不同类型 NCL 的神经影像学模式不同。结论： NCL 并不少见，可以根据临床调查和神经影像学检查结果怀疑诊断。诊断可以通过酶测定或基因检测来确认。