Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis
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 ce...
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MDPI AG
2023-09-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/18/6041 |
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| author | Federica Cavone Susanna Cappelli Alice Bonuccelli Sofia D’Elios Giorgio Costagliola Diego Peroni Alessandro Orsini Rita Consolini |
| author_facet | Federica Cavone Susanna Cappelli Alice Bonuccelli Sofia D’Elios Giorgio Costagliola Diego Peroni Alessandro Orsini Rita Consolini |
| author_sort | Federica Cavone |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T22:36:51Z |
| format | Article |
| id | doaj.art-0ee9124bf18e4ceaa4aefe59b1ff5fbb |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-10T22:36:51Z |
| publishDate | 2023-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-0ee9124bf18e4ceaa4aefe59b1ff5fbb2023-11-19T11:20:57ZengMDPI AGJournal of Clinical Medicine2077-03832023-09-011218604110.3390/jcm12186041Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential DiagnosisFederica Cavone0Susanna Cappelli1Alice Bonuccelli2Sofia D’Elios3Giorgio Costagliola4Diego Peroni5Alessandro Orsini6Rita Consolini7Pediatrics Unit, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, ItalySection of Clinical and Laboratory Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, ItalySection of Pediatric Neurology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, ItalySection of Clinical and Laboratory Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, ItalyPediatrics Unit, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, ItalyPediatrics Unit, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, ItalySection of Pediatric Neurology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, ItalySection of Clinical and Laboratory Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, ItalyAtaxia 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.https://www.mdpi.com/2077-0383/12/18/6041ataxiaimmunodeficiencyinborn errors of immunitymovement disorders |
| spellingShingle | Federica Cavone Susanna Cappelli Alice Bonuccelli Sofia D’Elios Giorgio Costagliola Diego Peroni Alessandro Orsini Rita Consolini Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis Journal of Clinical Medicine ataxia immunodeficiency inborn errors of immunity movement disorders |
| title | Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis |
| title_full | Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis |
| title_fullStr | Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis |
| title_full_unstemmed | Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis |
| title_short | Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis |
| title_sort | ataxia telangiectasia arising as immunodeficiency the intriguing differential diagnosis |
| topic | ataxia immunodeficiency inborn errors of immunity movement disorders |
| url | https://www.mdpi.com/2077-0383/12/18/6041 |
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