Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia - Case Reports in Clinical Medicine

CRCM > Vol.4 No.5, May 2015

Case Reports in Clinical Medicine

Volume 4, Issue 5 (May 2015)

ISSN Print: 2325-7075 ISSN Online: 2325-7083

Google-based Impact Factor: 0.23 Citations

Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia ()

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Download as PDF (Size: 396KB) PP. 184-188

DOI: 10.4236/crcm.2015.45037 2,970 Downloads 5,080 Views Citations

Author(s)

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

Affiliation(s)

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.

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

Share and Cite:

Serhane, H. , Louhab, N. , Sajiai, H. , Aitbatahar, S. and Amro, L. (2015) Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia. Case Reports in Clinical Medicine, 4, 184-188. doi: 10.4236/crcm.2015.45037.

Cited by

[1]	New mutation in ATM gen in patient whith Ataxia Telangiectasia. Clinical case
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[2]	Nueva mutación en el gen ATM en paciente con ataxis telangiectasia: Caso clínico
	2017

[3]	New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case
	2017

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