Pearson syndrome masquerading diamond blackfan anemia: a case report

Authors

  • Sandip P. Bartakke Department of Pediatric Hemato-oncology, Aditya Birla Memorial Hospital, Pune, Maharashtra, India
  • Abhilasha Ashok Sampagar Department of Pediatric Hemato-Oncology, Jawaharlal Nehru Medical College, Belagavi, Karnataka, India
  • Mahesh Kamate Department of Pediatric Neurology, Jawaharlal Nehru Medical College, Belagavi, Karnataka, India
  • Nishant Mittal Department of Pediatrics, Jawaharlal Nehru Medical College, Belagavi, Karnataka, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20184309

Keywords:

Mitochondrial disorder, Refractory anemia

Abstract

Pearson syndrome (PS) is rare and often fatal multisystemic mitochondrial disorder. Many of those who survive develop signs and symptoms later in life of a related disorder called Kearns-Sayre syndrome (KSS). 13-month-old male child presented with transfusion dependent anemia since the age of 3 months and was initially labeled as a case of Diamond Black fan Anemia. Mitochondrial and pancreatic enzyme replacement therapy. Through this case report, we attempt to address the fact that possibility of PS, which is often labeled as DBA in initial stages, should be considered in cases of congenital anemia of uncertain etiology. Early diagnosis of PS and interventional therapy in the form of mitochondrial and pancreatic replacement can significantly prolong survival and improve quality of life.

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References

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Gagne KE, Ghazvinian R, Yuan D, Zon RL, Storm K, Mazur-Popinska M, et al. Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. Blood. 2014;124(3):437-40.

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Published

2018-10-22

How to Cite

Bartakke, S. P., Sampagar, A. A., Kamate, M., & Mittal, N. (2018). Pearson syndrome masquerading diamond blackfan anemia: a case report. International Journal of Contemporary Pediatrics, 5(6), 2353–2355. https://doi.org/10.18203/2349-3291.ijcp20184309