Neuronal ceroid lipofuscinosis – the most common neurodegenerative disorder in childhood

Neuronal ceroid lipofuscinosis (NCL) is a group of lysosome disorders including fourteen types of disease, and as the group is the most fre quent neurodegenerative disease in childhood. The aim of this article is to increase awareness of all professionals dealing with children and to familiarise them with the possibility and importance of early diagnosis of NCL. The information presented is based on thorough evaluation of the literature and clinical data of NCL patients treated at our institution in the last 20 years. The main characteristic of NCL is progressive course of the disease involving overall neurological and cognitive impairment, seizures, and blindness due to retinal degeneration. There is a genotype-phenotype correlation in terms of the age at disease onset, severity of progression, epilepsy, behaviour and psychiatric problems. Also, there is correlation between genetic mutation and type of lipofuscin distribution in the cells seen by electron microscopy. Treatment of children with NCL is a big challenge. Palliative care, including epilepsy treatment has the main role. In some NCL types, there is a possibility for replacement therapy, as in the case of late-infantile form (CLN2). Gene therapy is still in the phase of clinical or experimental study. In conclusion, recognising the main clinical characteristics, early symptoms and diagnostic algorithms of NCL is crucial for early detection of NCL patients. Early diagnosis has become ever more important in the ‘new era’ in the light of greater possibilities of treating neuroprogressive diseases such as NCL and appropriate prenatal diagnosis.

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