Journal
JOURNAL OF CLINICAL MEDICINE
Volume 12, Issue 18, Pages -Publisher
MDPI
DOI: 10.3390/jcm12186041
Keywords
ataxia; immunodeficiency; inborn errors of immunity; movement disorders
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Ataxia telangiectasia (AT) is a rare disease characterized by neurodegenerative defects, immunodeficiency, and teleangiectasias. Ataxia is the main symptom of the disease.
Ataxia telangiectasia (AT) is a rare disease characterized by the early onset and slow progression of neurodegenerative defects, mainly affecting the cerebellum, associated with immunodeficiency and teleangiectasias. Ataxia is the hallmark of the disease and usually its first manifestation. Overt cerebellar ataxia usually becomes evident between 16 and 18 months of age, after the onset of walking, and is characterized by frequent falls and an ataxic gait with an enlarged base. We report the case of a child who first presented with serious recurrent infectious, without exhibiting neurological symptoms. The patient was initially diagnosed with combined immunodeficiency (CID) of unknown etiology for nearly 3 years, before he was definitively diagnosed with ataxia telangiectasia.
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