BRIV_adv
Annals of Indian Academy of Neurology
  Users Online: 243 Home | About the Journal | InstructionsCurrent Issue | Back IssuesLogin      Print this page Email this page  Small font size Default font size Increase font size
ORIGINAL ARTICLE
Year : 2021  |  Volume : 24  |  Issue : 2  |  Page : 192-197

Neuronal ceroid lipofuscinoses in children


1 Division of Pediatric Neurology and In-Charge Child Development Clinic, Department of Pediatrics, KAHER's J N Medical College, Belgaum, Karnataka, India
2 Department of Pediatrics, KAHER's J N Medical College, Belgaum, Karnataka, India
3 Department of Child Development and Pediatric Neurology Centre, KLES PK Hospital, Belgaum, Karnataka, India
4 Radiology, KAHER's J N Medical College, Belgaum, Karnataka, India

Correspondence Address:
Prof. Mahesh Kamate
Professor of Paediatric Neurology, KAHER's J N Medical College, Belgaum - 590 010, Karnataka
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/aian.AIAN_61_20

Rights and Permissions

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.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed549    
    Printed24    
    Emailed0    
    PDF Downloaded30    
    Comments [Add]    

Recommend this journal