Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia  

作　　者：Hind Serhane Nisserine Louhab Hafsa Sajiai Selma Aitbatahar Lamyae Amro 

机构地区：[1]Department of Respiratory Medicine, Laboratory PCIM, Faculty of Medicine and Pharmacy, Cadi Ayyad University, Marrakesh, Morocco [2]Department of Neurological Medicine, Faculty of Medicine and Pharmacy, Cadi Ayyad University, Marrakesh, Morocco

出　　处：《Case Reports in Clinical Medicine》2015年第5期184-188,共5页临床医学病理报告（英文）

摘　　要：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.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.

关 键 词：ATAXIA TELANGIECTASIA CEREBELLAR ATAXIA Occulocutaneous TELANGIECTASIA Alphaphotoprotein IMMUNODEFICIENCY Autosomal RECESSIVE Disease 

分 类 号：R5[医药卫生—内科学]