Asian Journal of Case Reports in Medicine and Health, .,Vol.: 1, Issue.: 1
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.
Abhijit Dutta1* and Pralay Sharma2
1Department of Organon of Medicine, National Institute of Homoeopathy, Kolkata, India.
2National Institute of Homoeopathy, Kolkata, India.
(1) Dr. Arun Singh, Professor, Department of Community Medicine, Rohilkhand Medical College & Hospital Bareilly, Uttar Pradesh, India.
(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.
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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.
Ataxia telangiectasia; neurodegenerative disorder; ataxic disorders.
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