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Asian Journal of Case Reports in Medicine and Health, .,Vol.: 1, Issue.: 1

Case Study

Tremulousness in a 7-yrs Old Child Diagnosed with Ataxia Telangiectasia: A Case Report

 

Abhijit Dutta1* and Pralay Sharma2

1Department of Organon of Medicine, National Institute of Homoeopathy, Kolkata, India.

2National Institute of Homoeopathy, Kolkata, India.

Article Information

Editor(s):

(1) Dr. Arun Singh, Professor, Department of Community Medicine, Rohilkhand Medical College & Hospital Bareilly, Uttar Pradesh, India.

Reviewers:

(1) David Vance, University of Alabama at Birmingham, USA.

(2) Alina S. Fedorova, Belarusian Research Center for Pediatric Oncology, Belarus.

(3) Luis Rafael Moscote-Salazar, University of Cartagena, Cartagena de Indias, Colombia.

Complete Peer review History: http://www.sciencedomain.org/review-history/28205

Abstracts

Ataxia telangiectasia is a rare autosomal recessive neurodegenerative disorder primarily characterized by cerebellar degeneration manifested as ataxia, telangiectasia, immunodeficiency, and cancer susceptibility and radiation sensitivity. Clinically A-T cases presents itself with a variability of symptoms but basic primary presentations are almost always present. This case demonstrates a 7yrs old girl who presented with tremulousness of limbs, difficulty to move the eye ball with command and dysarthria. On further clinical examination, a plain MRI of Brain and other relevant investigations suggested this as a case of A-T. Thus rationale of this typical case report gives a glimpse about a variant of A-T which is often misdiagnosed as other ataxic disorders.

Keywords :

Ataxia telangiectasia; neurodegenerative disorder; ataxic disorders.

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