BACKGROUND:

Neurodegenerative disorders is an umbrella term for over 600 conditions characterized by varied clinical manifestations, complex molecular biology and protean investigations.

Our study aims to assess the spectrum of clinical manifestations and use of the specific investigations in children with neurodegenerative disorders.

METHODOLOGY:

It is an observational retrospective study conducted for a duration of 1 year  (May 2017 to May 2018) by Neurology department, Kanchi Kamakoti Child’s Trust Hospital. Children aged between 6 months to 18 years, with loss of previously acquired milestones or family history of neurodegenerative disorders were included in the study.

RESULTS:

The study included 57 children who satisfied the inclusion criteria. Children were classified based on their clinical presentation as white matter disorders (35%), grey matter disorders (26%), Ataxia associated disorders ( 12%), extrapyramidal syndromes (9%), mixed findings ( 18%).  Based on organelle dysfunction patients were further classified as having lysosomal disorders ( 21%), peroxisomal disorders (10%), mitochondrial disorders ( 53%) and others ( 39%). While 45% of patients had significant contributory ophthalmological findings, 70% of patients had MRI findings supporting the clinical diagnosis. Enzyme assays, genetic mutation studies were done in 26 (49%) of cases and were positive for 54 % of the cases.

CONCLUSION:

The most common clinical presentation was regression of milestones with White matter involvement. Mitochondrial disorders were found to be the most common cause of Neurodegenerative disease in our study. Clinical and supportive radiological investigations formed a cornerstone in our study supported by the upcoming genetic tests.