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Category: Volume 11 Issue 02 February 2023
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Title: A rare association of dandy walker variant in a child with Ataxia Telangiectasia

Authors: Dr Shefali P, Dr Sandeep B, Dr Kiran B, Dr Vidyadhar, Dr Chaitrashree

 DOI: https://dx.doi.org/10.18535/jmscr/v11i2.02

Abstract

Ataxia telangiectasia (AT) is an autosomal recessive neurodegenerative disorder caused by mutation in ATM gene. It is a complex multisystem disorder characterized by features of cerebellar degeneration, telangiectasia and immunodeficiency. Association of dandy walker syndrome with ataxia telangiectasia has been rarely reported. Here we present a case of 7year old female child who had features of ataxia telangiectasia and on further evaluation found to have dandy walker variant.

Keywords- ataxia telangiectasia, cerebellar ataxia, ATM gene, neurological impairment

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Corresponding Author

Dr Shefali P

Assistant Professor, Pediatrics Department, East Point College of Medical Sciences and Research Centre, Bangalore, Karnataka