A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia.

ABSTRACT:

Background

Ataxia-telangiectasia (A-T) is a rare autosomal recessive DNA repair disorder, characterized by progressive cerebellar degeneration, telangiectasia, immunodeficiency, recurrent sinopulmonary infections, radiation sensitivity, premature aging and predisposition to cancer. Although the association with autoimmune and chronic inflammatory conditions such as vitiligo, thrombocytopenia and arthritis has occasionally been reported, an onset with articular involvement at presentation is rare.

Case presentation

We herein report the case of a 7-year-old Caucasian girl who was admitted to the Rheumatology Department with a history of febrile chough and polyarthritis which led initially to the suspicion of an autoinflammatory disease. She had overt polyarthritis with knees d

SUBMITTER: De Nardi L 

PROVIDER: S-EPMC10478427 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature