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.
Highlights
Congenital ataxia is a clinically and genetically heterogeneous group of progressive neurodegenerative disorders
It is an autosomal recessive, multisystem disease characterized by progressive cerebellar ataxia, telangiectasia of the eyes and skin, variable immunodeficiency with a predisposition to sinopulmonary infections [3]
There was an improvement in practical self-care skills and her quality of life. This case demonstrates the complexity of early diagnosis of ataxia-telangiectasia syndrome in children when other neurological disorders can be present
Summary
Congenital ataxia is a clinically and genetically heterogeneous group of progressive neurodegenerative disorders. AT is a rare form of phakomatoses with a specific neurocutaneous syndrome It is an autosomal recessive, multisystem disease characterized by progressive cerebellar ataxia, telangiectasia of the eyes and skin, variable immunodeficiency with a predisposition to sinopulmonary infections [3]. The combination of ataxia and telangiectasia with recurrent respiratory diseases can cause significant difficulties and confusion in diagnosing this rare syndrome. CASE PRESENTATION Patient K., a 15 years-old girl, was followed in a pediatric department since she was two months of age She had been repeatedly treated for respiratory diseases and other health issues. At the age of three, the patient was diagnosed with cerebral palsy and ataxia She had progressively developed difficulties in muscular coordination of the head and extremities with trunk swaying, gait ataxia, dyssynergia, muscular hypotonia, and history of frequent falls.
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