医学診断法ジャーナル
オープンアクセス

概要

Atypical Presentation of Previously Described Classical Ataxia Telangiectasia Pathogenic Mutation

Standish-Parkin L, Morales JA, Zahouani T, Carugno P, Prokhorov S

Ataxia Telangiectasia (A-T) is a rare genetic disorder characterized by Cerebellar ataxia, telangiectasia, immunodeficiency and susceptibility for malignancies. The clinical presentation and severity varies in affected patients, which could point out an aspect of gene heterogeneity of this disease that is yet to be identified. This case highlights a rare presentation of a patient diagnosed with A-T, with absence of recurrent and/or severe sinopulmonary disease. A multidisciplinary approach, genetic counselling and preventive care for early cancer detection should be ensured.