The Essential History of a Patient with Pearson Marrow, a Case Report
Journal of Pediatric Nephrology,
Vol. 8 No. 1 (2020),
,
Page 1-3
https://doi.org/10.22037/jpn.v8i1.29341
Abstract
Pearson syndrome is a rare mitochondrial disorder confirmed by mt-DNA deletion which typically occurs in the first two years of life. That is to say children are at high fatal risk, most infants are marked with some common features especially anemia and pancreatitis, which results in death in early childhood. A 6-month-old Iranian female infant was presented with macrocytic anemia, required packed red blood cell transfusions. She also was affected by exocrine pancreatic dysfunction, in which she underwent Creon treatment.
By first year of age she had experienced some severe metabolic crises intermittently. After hospitalized for some months she was expired unfortunately. In conclusion, Pearson syndrome, as a rare disease affects many organs, such as liver, kidney, pancreas, bone marrow, which led to anemia, failure to thrive, and multi organ failure. In such cases, a physician must consider and evaluate all possible damages, especially anemia and pancreatitis. We present a case of Pearson syndrome with anemia
Keywords: Mitochondrial disorders; Pearson syndrome; Pancreatitis; Acidosis; Infants.- Pearson marrow
- anemia
How to Cite
References
Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N. Biochemical abnormalities in Pearson syndrome. Am J Med Genet A. 2015 Mar;167(3):621-8.
Tumino M, Meli C, Farruggia P, et al. Clinical manifestations and management of four children with Pearson syndrome. Am J Med Genet A. 2011 Dec;155A(12):3063-6.
Anderson S, Bankier B, Barel M, deBruijn A, Coulson J, Drouin I.C, et al. Sequence and organization of the human mitochondrial. chondrialgenome. Nature 1981;290:457-465.
Pearson H, Lobel S. A, Kocoshis J. W, Naiman J, Windmuller A. T, Lammi R, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J. Pediatr. 1979;95:976-984.
Stoddard R. A, D. C. Mc, Curnin, S. J. Shultenover, J. E. Wright, R.A. de Lemos. Syndrome of refractory- sideroblastic with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate. J. Pediatr. 1981;99:259-261.
Reddy JM, Jose J, Prakash A, Devi S. Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to the diagnosis. Sudan J Paediatr. 2019;19(2):161–164. https://doi.org/10.24911/SJP.106-1534158413
Xin-Yu Chen, Si-Yu Zhao, Yan Wang, Dong Wang, Chang-Hu Dong, Ying Yang, et al. Novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity, and progression, Mitochondrial DNA Part A 2016;27:4,2492-2495, DOI: 10.3109/19401736.2015.1033712.
Katelyn E. Gagne, Roxanne Ghazvinian, Daniel Yuan, Rebecca L. Zon, Kelsie Storm, Magdalena Mazur-Popinska, et al.; Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. Blood 2014; 124 (3): 437–440.
- Abstract Viewed: 109 times
- PDF Downloaded: 48 times