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A Case Study on Rare Disease of Neuronal Ceroid –Lipofuscinoses (NCL)

T Priyadharsini , T Priyadharsini

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International Journal of Pediatric Nursing 6(3):p 161-164, . | DOI: http://dx.doi.org/10.21088/ijpen.2454.9126.6320.7
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T Priyadharsini. A Case Study on Rare Disease of Neuronal Ceroid –Lipofuscinoses (NCL). Int J Pediatr Nurs. 2020;6(3):161–164
 

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Abstract

The Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births worldwide. This family of diseases results from mutations in one of 14 different genes that share common clinical and pathological etiologies. Clinically, the diseases are subcategorized into infantile, late-infantile, juvenile and adult forms based on their age of onset. Though the disease phenotypes may vary in their age and order of presentation. The article depicts a case study of 7 year old male child is a known case of neuronal ceroid lipofuscinosis. At the age of 3 years he had one seizure not associated with fever, he had decline since 5 years of age and his vocabulary came down this is a late infantile type of neuronal ceroid lipofuscinoses the importance of history taking, physical assessment and medical intervention were done. Pathological hall marks of NCL include the accumulation of storage material or ceroid in the lysosome. progressive neuronal degeneration and massive glial activation. Advances have been made in genetic diagnosis and counseling for families. Current diseases management is primarily targeted at controlling the symptoms rather than curing the disease. The discussion will provide an overview of the therapeutic approaches currently being pursued in preclinical and clinical trial to treat different forms of NCL as well as provide insight to novel therapeutic approaches in the development for the NCL.

Keywords: Neuronal Ceroid; Lipofuscinoses (NCL).

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  • T Priyadharsini
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  • T Priyadharsini
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T Priyadharsini. A Case Study on Rare Disease of Neuronal Ceroid –Lipofuscinoses (NCL). Int J Pediatr Nurs. 2020;6(3):161–164
 

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DOI: http://dx.doi.org/10.21088/ijpen.2454.9126.6320.7
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