Bloom syndrome with lung involvement.
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.
Nair
Girija
G
Department of Tuberculosis and Chest, Dr. D. Y. Patil Medical College, India.
Lobo
Ivona
I
Jayalaksmi
T K
TK
Uppe
Abhay
A
Jindal
Savita
S
Chandra
Abhishek
A
Swami
Shivani
S