Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis.
ataxia
immunodeficiency
inborn errors of immunity
movement disorders
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
19 Sep 2023
19 Sep 2023
Historique:
received:
18
07
2023
revised:
29
08
2023
accepted:
08
09
2023
medline:
28
9
2023
pubmed:
28
9
2023
entrez:
28
9
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37762981
pii: jcm12186041
doi: 10.3390/jcm12186041
pmc: PMC10531840
pii:
doi:
Types de publication
Case Reports
Langues
eng
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