Bloom syndrome with lung involvement

Autor: Nair Girija, Lobo Ivona, Jayalaksmi T, Uppe Abhay, Jindal Savita, Chandra Abhishek, Swami Shivani
Jazyk: angličtina
Rok vydání: 2009
Předmět:
Zdroj: Lung India, Vol 26, Iss 3, Pp 92-94 (2009)
Druh dokumentu: article
ISSN: 0970-2113
Popis: We report a case of a 24-year old male presented with cough and breathlessness with diabetes mellitus and diagnosed as a case of bloom syndrome. He was a product of consanguineous marriage, having short stature, dolicocephaly, polydactyly, prominent nose with telangiectasia face. The respiratory system examination revealed bilateral coarse crepitations and wheezes and the chest X-ray revealed emphysema with right middle zone inhomogenous opacity. Also, CT thorax examination revealed bilateral cystic bronchiectasis with bronchiolitis obliterans. Bloom′s syndrome was diagnosed on the basis of clinical features.
Databáze: Directory of Open Access Journals