TITLE:
Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia
AUTHORS:
Hind Serhane, Nisserine Louhab, Hafsa Sajiai, Selma Aitbatahar, Lamyae Amro
KEYWORDS:
Ataxia Telangiectasia, Cerebellar Ataxia, Occulocutaneous Telangiectasia, Alphaphotoprotein, Immunodeficiency, Autosomal Recessive Disease
JOURNAL NAME:
Case Reports in Clinical Medicine,
Vol.4 No.5,
May
26,
2015
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.