complexity of early diagnosis of congenital ataxia: a case report

Koreniuk, Olena and Ilchenko, Svitlana and Hernandez, Anne P. (2021) complexity of early diagnosis of congenital ataxia: a case report. Journal of Rare Diseases and Orphan Drugs, Vol. 2. pp. 30-34. ISSN 2766-9696

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Abstract

Ataxia-telangiectasia (AT) is a rare form of phakomatoses with multisystem lesions that are characterized by a specific neuro-cutaneous syndrome. AT is a multisystem disease that includes progressive clinical manifestations of cerebral ataxia, oculocutaneous telangiectasia, and increased susceptibility to cancer due to ionizing radiation sensitivity. Lack of awareness of this disease by medical providers could ultimately lead to a delay in diagnosis and increase morbidity in patients. This case study presents the history of a female adolescent patient, who was eventually placed in protective custody with congenital AT. She was clinically observed for fifteen years. This paper demonstrates the complexity of early diagnosis of AT in children. The importance of a comprehensive evaluation of neural and immunological systems, timely genetic testing, and aggressive treatment of infectious diseases is paramount in the formulation of an appropriate treatment plan. Early diagnosis and management significantly improve the prognosis and quality of life for these patients.

Item Type:	Article
Additional Information:	https://doi.org/10.36013/jrdod.v2i.58
Uncontrolled Keywords:	congenital ataxia, telangiectasia, children, the complexity of diagnosis.
Subjects:	Propedevtika pediatrics
Divisions:	Departments > Department of Children's Diseases
Depositing User:	Анастасия Жигар
Date Deposited:	30 Nov 2021 11:30
Last Modified:	30 Nov 2021 11:30
URI:	http://repo.dma.dp.ua/id/eprint/7178

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