EN
Diamond Blackfan Syndrome
Abstract
We report a case of Diamond Blackfan syndrome in 6yr old girl who was detected to have severe anaemia on D4 of life. The baby was detected to have polydactyly right hand (preaxial) and weak radial pulse on right side. On examination there was severe pallor without hepatosplenomegaly. The investigations revealed haemoglobin of 1.9 gm% with reticulocyte count of 0.3%. Other investigations were done to establish the cause of anaemia. The sickling test was negative, Peripheral blood smear revealed macrocytic anaemia, Hb electrophoresis revealed fetal haemoglobin of 2.7 %. Bone marrow examination revealed markedly reduced erythroid series, stress cytogenetics study done later was negative for any chromosomal breakage. Based on the clinical profile and investigation reports the diagnosis of Diamond Blackfan Syndrome was made. The child was put on corticosteroids which were gradually tapered. Subsequently any attempt at withdrawl of steroids resulted in fall in haemoglobin levels. Hence the child has been maintained on low dose steroids and has remained symptom free.
Keywords
Details
Primary Language
English
Subjects
-
Journal Section
-
Publication Date
January 8, 2010
Submission Date
December 18, 2009
Acceptance Date
-
Published in Issue
Year 2010 Volume: 2 Number: 1
APA
Sınha, R., Sıngh, D., Sodhı, K., Kıran, Y. K., & John, B. (2010). Diamond Blackfan Syndrome. Journal of Pediatric Sciences, 2(1). https://doi.org/10.17334/jps.72467
AMA
1.Sınha R, Sıngh D, Sodhı K, Kıran YK, John B. Diamond Blackfan Syndrome. Journal of Pediatric Sciences. 2010;2(1). doi:10.17334/jps.72467
Chicago
Sınha, Rahul, Daljit Sıngh, Kirandeep Sodhı, Y K Kıran, and Biju John. 2010. “Diamond Blackfan Syndrome”. Journal of Pediatric Sciences 2 (1). https://doi.org/10.17334/jps.72467.
EndNote
Sınha R, Sıngh D, Sodhı K, Kıran YK, John B (January 1, 2010) Diamond Blackfan Syndrome. Journal of Pediatric Sciences 2 1
IEEE
[1]R. Sınha, D. Sıngh, K. Sodhı, Y. K. Kıran, and B. John, “Diamond Blackfan Syndrome”, Journal of Pediatric Sciences, vol. 2, no. 1, Jan. 2010, doi: 10.17334/jps.72467.
ISNAD
Sınha, Rahul - Sıngh, Daljit - Sodhı, Kirandeep - Kıran, Y K - John, Biju. “Diamond Blackfan Syndrome”. Journal of Pediatric Sciences 2/1 (January 1, 2010). https://doi.org/10.17334/jps.72467.
JAMA
1.Sınha R, Sıngh D, Sodhı K, Kıran YK, John B. Diamond Blackfan Syndrome. Journal of Pediatric Sciences. 2010;2. doi:10.17334/jps.72467.
MLA
Sınha, Rahul, et al. “Diamond Blackfan Syndrome”. Journal of Pediatric Sciences, vol. 2, no. 1, Jan. 2010, doi:10.17334/jps.72467.
Vancouver
1.Rahul Sınha, Daljit Sıngh, Kirandeep Sodhı, Y K Kıran, Biju John. Diamond Blackfan Syndrome. Journal of Pediatric Sciences. 2010 Jan. 1;2(1). doi:10.17334/jps.72467