ICNC Abstracts, ICNC 2018

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CHILDHOOD ONSET CHRONIC ATAXIA: A CLINICAL, ETIOPATHOLOGICAL, RADIOLOGIC AND GENETIC AUDIT.
Pallavi Shriram Todase, shilpa kulkarni, sonam kothari, anaita hegde, krishankumar shah

Last modified: 2018-09-09

Abstract


Background:

Childhood onset chronic ataxia (CAC) can be due to cerebellar, vestibular or neuropathic disease. It may be pure ataxia or ataxia plus syndrome. We present an audit of patients presenting with childhood onset chronic ataxia.

Method:

This retrospective study aims to present an audit of patients who presented with childhood onset (1-18 years) chronic ataxia in past 5 years.  Their clinical presentation, along with examination findings, investigations, MRI features and Genetic diagnosis were noted.

Results:

Out of the total 50 patients who presented with ataxia, 29 were male & 21 were female. 15/50 were born out of consanguineous marriage. 35/50 developed ataxia between 1-5 years of age,11/50 between 5-10 years of age and 4/50 had ataxia after 10 years of age. 4 children presented with episodic ataxia. On examination, 8 children had telangiectasia. 11/50 had neuropathy, out of which axonal were (n=6) demyelinating were (n=1). Radiologically, normal MRI findings were in (n=7),cerebellar atrophy(n=18),vermian abnormality(n=4) white matter hyperintensities(n=5),basal ganglia abnormalities(n=3),hypomyelination (n=2), leucodystrophy (n=1). Genetic testing was done in 19 patients. Out of which 16 patients had positive and 4 patients had negative results. Out of the positive ones,Freidrichs ataxia(n=3), APTX (n=2) and Leukoencephalopathy with Vanishing White Matter Disease(n=2), Spinocerebellar ataxia 2(n=1), EARS2(n=1),Ataxia Telangiectasia(n=1),Giant Axonal Neuropathy(n=1),Cerebrotendinous Xanthomatosis(n=1) and DNMT1 mutation(n=1).

Conclusion:

Evaluating a child with ataxia is a challenge. Pattern recognition on MRI helps, but a battery of investigations including genetics is required for accurate diagnosis.


Keywords


ataxia,cerebellar atrophy

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