Volume 27, Issue 136, June 2023

A rare case of Ataxia Telangiectasia with cerebellar atrophy: A case report

Sri Sita Naga Sai Priya K^1♦, Amar Taksande², Meshram RJ³, Manasa Suryadevra⁴

¹Post Graduate Resident, Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi-442004, Wardha, Maharashtra, India
²Professor, Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi-442004, Wardha, Maharashtra, India
³Associate Professor, Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi-442004, Wardha, Maharashtra, India
⁴Post Graduate Resident, Department of Radio diagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi Meghe-442004, Wardha, Maharashtra State, India

^♦Corresponding author
Post Graduate Resident, Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi-442004, Wardha, Maharashtra, India

ABSTRACT

Ataxia Telangiectasia (A-T) is an uncommon genetic disorder that affects multiple systems in the body, encompassing the nervous and immune systems. The diagnosis of A-T does not have a definitive diagnostic test and it primarily relies on a clinical examination, elimination of other similar conditions and supportive laboratory tests. The majority of individuals diagnosed with A-T exhibit identified mutations that arise in ATM gene, which plays a crucial role in the repair of damaged DNA. The high level of alpha-fetoprotein on blood test is also consistent with A-T. We report a 10-year-old male child who presented with difficulty in maintaining postural control, unsteady gait, slight bulbar telangiectasia and neurological signs such as dysdiadochokinesia, past pointing and intentional tremors. A-T has no conclusive cure, only supportive treatment such as vitamin E supplementation and balance exercises can be helpful in managing symptoms and maintaining quality of life.

Keywords: Cerebellar atrophy, Immunodeficiency, alpha-fetoprotein, Ataxia - Telangiectasia

Medical Science, 2023, 27, e281ms3072

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DOI: https://doi.org/10.54905/disssi/v27i136/e281ms3072

Published: 29 June 2023