E-ISSN 1858-8360 | ISSN 0256-4408
 

Case Report 


Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis

Joe Jose, Jyothi Muni Reddy, Anand Prakash, Shanthala Devi AM.

Abstract
Pearson syndrome is a rare disorder of mitochondrial metabolism presenting in infancy with transfusion dependent refractory anaemia and multisystem involvement. We report a case of a 3-month-old infant presenting with anaemia requiring multiple transfusions. The presence of lactic acidosis, hyperglycaemia and cytoplasmic vacuoles in erythroid precursors on bone marrow aspiration study helped to suspect the diagnosis. However, the baby succumbed to metabolic crisis before he could be offered definitive therapy. This case report aims to emphasise the typical bone marrow aspiration finding which serves as a useful marker for establishing the diagnosis of this rare disorder, which is mostly fatal without bone marrow transplantation.

Key words: Mitochondrial disorders; Pearson marrowpancreas syndrome; Refractory anaemia; Infants.


 
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How to Cite this Article
Pubmed Style

Jose J, Reddy JM, Prakash A, AM SD, . Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis. Sudan J Paed. 2019; 19(2): 161-164. doi:10.24911/SJP.106-1534158413


Web Style

Jose J, Reddy JM, Prakash A, AM SD, . Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis. http://www.sudanjp.com/?mno=4062 [Access: January 19, 2020]. doi:10.24911/SJP.106-1534158413


AMA (American Medical Association) Style

Jose J, Reddy JM, Prakash A, AM SD, . Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis. Sudan J Paed. 2019; 19(2): 161-164. doi:10.24911/SJP.106-1534158413



Vancouver/ICMJE Style

Jose J, Reddy JM, Prakash A, AM SD, . Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis. Sudan J Paed. (2019), [cited January 19, 2020]; 19(2): 161-164. doi:10.24911/SJP.106-1534158413



Harvard Style

Jose, J. ., Reddy, J. M., Prakash, A. ., AM, S. D. & (2019) Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis. Sudan J Paed, 19 (2), 161-164. doi:10.24911/SJP.106-1534158413



Turabian Style

Jose, Joe , Jyothi Muni Reddy, Anand Prakash, Shanthala Devi AM, and . 2019. Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis. Sudanese Journal of Paediatrics, 19 (2), 161-164. doi:10.24911/SJP.106-1534158413



Chicago Style

Jose, Joe , Jyothi Muni Reddy, Anand Prakash, Shanthala Devi AM, and . "Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis." Sudanese Journal of Paediatrics 19 (2019), 161-164. doi:10.24911/SJP.106-1534158413



MLA (The Modern Language Association) Style

Jose, Joe , Jyothi Muni Reddy, Anand Prakash, Shanthala Devi AM, and . "Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis." Sudanese Journal of Paediatrics 19.2 (2019), 161-164. Print. doi:10.24911/SJP.106-1534158413



APA (American Psychological Association) Style

Jose, J. ., Reddy, J. M., Prakash, A. ., AM, S. D. & (2019) Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis. Sudanese Journal of Paediatrics, 19 (2), 161-164. doi:10.24911/SJP.106-1534158413





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