NCL Disorders: Common Causes of Dementia in Children: A Case Report

DOI

10.2991/978-94-6463-310-8_4How to use a DOI?

Keywords

dementia; children; childhood; neuronal ceroid lipofuscinoses (NCL)

Abstract

Background

Dementia in children is a rare case, which results in general neurocognitive decline that is chronic and progressive in the form of loss of skills after a period of normal development. Similar to adult neurodegenerative disorders, childhood dementia also exhibits cognitive deterioration, behavioural abnormalities, and altered sleeping and feeding patterns. There were also seizures, motor problems, visual disturbances, and cognitive impairments. Dementia in children is often caused by Neuronal Ceroid Lipofuscinoses (NCL). NCL is a group of lysosomal storage disorders linked by accumulating a characteristic storage material in neurons and other cell types and progressive clinical deterioration, usually combined with visual loss, epilepsy, and motor impairment. NCL disorders result from mutations in 14 different ceroid lipofuscinosis neuronal (CLN) genes (CLN1–CLN14). Due to the large variety of NCL-causing genes and significant genotype phenotypic variability, diagnosing an NCL is difficult. However, a precise diagnosis of an NCL disease can be made in a time- and cost-effective manner using very few diagnostic steps [1], [2].

Case Report

A 7-year-old girl with primary complaints of seizures came to the hospital with her mother. So far, she has a history of seizures at the age of 4 years. In the last two years, there have been many developmental declines. Previously, the patient could speak fluently, but now the patient can only remember the word "mother". Impaired vision and difficulty walking are also experienced.

Conclusion

Childhood dementia has symptoms that involve cognitive impairment, motor disturbances, visual disturbances, and seizures. Dementia in children can cause a lot of worry, anxiety, and difficulties during therapy due to its complicated symptoms. It is essential to take a collective approach to childhood dementia that can influence the prognosis and efficacy of therapy. Based on the condition of the patient who experiences several symptoms such as seizures, mood changes, body movement disorders or ataxia, communication disorders, and visual disturbances. The patient's condition aligns with the theory that explains the symptoms of NCL, especially CLN2.

Copyright

© 2023 The Author(s)

Open Access

Open Access This chapter is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/), which permits any noncommercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license and indicate if changes were made.

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TY  - CONF
AU  - Aminah Marhani Hasibuan
AU  - Cindy Chias Arthy
PY  - 2023
DA  - 2023/12/18
TI  - NCL Disorders: Common Causes of Dementia in Children: A Case Report
BT  - Proceedings of the 6th International Conference of Neuroscience, Neurology and Psychiatry Universitas Sumatera Utara (ICONAP 2023)
PB  - Atlantis Press
SP  - 30
EP  - 39
SN  - 2468-5739
UR  - https://doi.org/10.2991/978-94-6463-310-8_4
DO  - 10.2991/978-94-6463-310-8_4
ID  - Hasibuan2023
ER  -