Neuronal Ceroid Lipofuscinoses in Children

Ann Indian Acad Neurol. Mar-Apr 2021;24(2):192-197. doi: 10.4103/aian.AIAN_61_20.

PMID: 34220062

Mahesh Kamate, Narendranadha Reddy, Mayank Detroja

Highlights: Neuronal ceroid lipofuscinoses (NCL) is not uncommon and diagnosis can be suspected based on clinical investigations and neuroimaging findings.

Abstract

Background: The neuronal ceroid lipofuscinoses (NCL) are a group of gray matter neurodegenerative disorders marked by ceroid lipopigment accumulation in lysosomes in neurons and other cell types. There are few published research on NCL in India, particularly among children.

Methods: From January 2019 to December 2019, a retrospective study of confirmed NCL patients diagnosed over a ten-year period was conducted.

Results: Based on enzymatic tests or genetic testing employing next-generation sequencing, fifty children were diagnosed with NCL. CLN-1 (ceroid lipofuscinoses, neuronal-1) was diagnosed in around 15 children based on palmitoyl protein thioesterase-1 deficiency; CLN2 (ceroid lipofuscinoses, neuronal-2) was diagnosed in 24 children based on deficient tripeptidyl-peptidase-1 activity; based on genetic testing, three patients were diagnosed as CLN6, five patients as CLN7, one case each of CLN8, CLN11, and CLN14. Refractory seizures, developmental delay/regression, and aberrant movements were among the clinical manifestations. In the current case series, visual failure was uncommon. Varied forms of NCL had different neuroimaging patterns. Over the course of 5-10 years after the beginning of the disease, all of the children's health deteriorated, with many of them dying.

Conclusion: NCL is a prevalent condition for which a diagnosis might be suspected based on clinical and neuroimaging evidence. Enzymatic assays or genetic tests can be used to confirm the diagnosis.

Keywords: Enzyme assay, neuroimaging, neuronal ceroid lipofuscinoses, next-generation sequencing