ICNC Abstracts, ICNC 2018

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NCL11:A rare cause of pure pancerebellar atrophy
Mahesh Kamate

Last modified: 2018-09-09

Abstract


Neuronal ceroid lipofuscinosis (NCL) is a group of progressive neurodegenerative disorders characterized by accumulation of ceroid lipopigment in lysosomes in neurons and other cell types. With advances in genetics of NCL, 14 types of NCL have been described till date.NCL type 11 was first described in 2014 in two young adult siblings and was found to be due to a homozygous progranulin gene mutation. These siblings had progressive retinopathy, recurrent generalized seizures, moderate ataxia and subtle cognitive dysfunction. Palinopsia was present and MRI showed selective and severe cerebellar atrophy which was progressive with age. There have been no further reports of NCL 11 in literature. We here present a 14 year old girl born to second degree consanguineously married couple who presented with gradually increasing frequency of seizures for the past 18 months. She did not have dementia, visual disturbances or ataxia. She had an elder sister who had seizures from 8 years of age and died after few years. Her fundus examination was normal. EEG showed frequent bilateral (left more than right) temporo-parietal discharges. Her MRI showed pure cerebellar atrophy mainly affecting the vermis. Her MRI findings suggested a neurodegenerative disorder like NCL and prompted us to go for Whole exome screen which revealed a homozygous mutation c.912G>A in exon 9 of GRN gene which is pathogenic. To the best of our knowledge this is the third case of NCL 11 and the first from India.


Keywords


Neuronal ceroid lipofuschinosis, cerebellar atrophy, progranulin

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