Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia

Hind Serhane¹, Nisserine Louhab², Hafsa Sajiai¹, Selma Aitbatahar¹, Lamyae Amro¹

¹Department of Respiratory Medicine, Laboratory PCIM, Faculty of Medicine and Pharmacy, Cadi Ayyad University, Marrakesh, Morocco.
²Department of Neurological Medicine, Faculty of Medicine and Pharmacy, Cadi Ayyad University, Marrakesh, Morocco.

DOI: 10.4236/crcm.2015.45037                

Abstract

Ataxia Telangiectasia (AT) is a rare autosomal recessive multisystem disease. The diagnosis is often made on a clinical triad that combines neurological signs dominated by a progressive cerebellar ataxia, oculocutaneous signs (telangiectasia, coffee stain milk), immunodeficiency (humoral and cellular) with sinopulmonary infections and elevated alphaphetoprotein. The diagnosis of AT is usually early, however, some forms may be revealed late. We reported a case of a 19-year-old patient, admitted for severe pneumonia with Klebsiella Pneumonia. In its history, it was found a notion of recurrent respiratory infections and bronchiectasis. In its clinical examination, it had been discovered cerebellar ataxia and occulocutaneous telangiectasia. The determination of plasmatic alphafoetoprotein was elevated, and the search of immunodeficiency showed a mixed deficit (humoral and cellular) suggesting the diagnosis of AT.

Keywords

Ataxia Telangiectasia, Cerebellar Ataxia, Occulocutaneous Telangiectasia, Alphaphotoprotein, Immunodeficiency, Autosomal Recessive Disease

Conflicts of Interest

The authors declare no conflicts of interest.

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