Ataxia Telangiectasia- A Case Report

Title: Ataxia Telangiectasia- A Case Report

Authors: Muhamed Shabeer, Asok Nanda, Nasreen Ali, Biswajith Pattnaik

DOI: https://dx.doi.org/10.18535/jmscr/v5i6.19

Abstract

Ataxia Telangiectasia (AT) is a rare autosomal recessive disease with multisystem disorder. A-T is characterized by progressive cerebellar degeneration, telangiectasia, immunodeficiency, recurrent Sino pulmonary infections, radiation sensitivity, premature aging, and a predisposition to cancer development.

Here we report a case of 6-year-old female child who presented to our pediatric department with complaints of unsteady gait, feeding difficulty, hand mouth in coordination, slurring of speech diagnosed to be a case of Ataxia Telangiectasia. Our aim is to create a deep insight into the subject and help in adding valuable knowledge to the same.

Keywords: Ataxia telangiectasia, ATM gene, Cerebellar Atrophy.

References

1. Huang KY, Shyur SD, Wang CY, Shen EY, Liang DC. Ataxia telangiectasia: report of two cases. Journal of microbiology, immunology, and infection Wei mian yu gan ran za zhi. 2001 Mar;34(1):71-5.

2. Majumder B, Rahman MJ, Ahmed S. Ataxia Telangiectasia-A Case Report.

3. Smith LL, Conerly SL. Ataxia-telangiectasia or Louis-Bar syndrome. Journal of the American Academy of Dermatology. 1985 Apr 1;12(4):681-96.

4. Savitsky K, Bar-Shira A, Gilad S, Rotman G. A single ataxia telangiectasia gene with a product similar to Pl-3 kinase. Science. 1995 Jun 23;268(5218):1749.

5. Nissenkorn A, et al. Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort. Pediatr Res. 2016;79(6):889–94

6. Boder E. Ataxia-telangiectasia: an overview. Kroc Found Ser. 1985;19:1–63.

7. Crawford TO. Ataxia telangiectasia. Semin Pediatr Neurol. 1998;5(4):287–94.

8. Boder E, Sedgwick RP. Ataxia-telangie-ctasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics. 1958;21(4):526–54.

9. Nowak-Wegrzyn A, et al. Immunodeficiency and infections in ataxia-telangiectasia. J Pediatr. 2004;144 (4):505–11.

10. Driessen GJ, et al. Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity. J Allergy Clin Immunol. 2013;131(5):1367–75. e9

11. Lefton-Greif MA, et al. Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia. J Pediatr. 2000;136 (2):225–31

12. Vinters HV, Gatti RA, Rakic P. Sequence of cellular events in cerebellar ontogeny relevant to expression of neuronal abnormalities in ataxia-telangiectasia. Kroc Found Ser. 1985;19:233–55.

13. Gatti RA, Vinters HV. Cerebellar pathology in ataxia-telangiectasia: the significance of basket cells. Kroc Found Ser. 1985;19:225–32

14. Stray-Pedersen A, et al. Alpha fetoprotein is increasing with age in ataxia-telangiectasia. Eur J Paediatr Neurol. 2007;11(6):375–80.

15. Stray-Pedersen A, Borresen-Dale AL, Paus E, Lindman CR, Burgers T, Abrahamsen TG. Alpha fetoprotein is increasing with age in ataxia–telangiectasia. European journal of paediatric neurology. 2007 Nov 30;11(6):375-80.

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