Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction, Pearson's marrow/pancreas syndrome
Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death. It is usually fatal in infancy. The few patients who survive into adulthood often develop symptoms of Kearns–Sayre syndrome. It is caused by a deletion in mitochondrial DNA. Pearson syndrome is very rare: fewer than a hundred cases have been reported in medical literature worldwide.
The syndrome was first described by pediatric hematologist and oncologist Howard Pearson in 1979;[1] the deletions causing it were discovered a decade later.[2]
^Pearson, Howard A.; Lobel, Jeffrey S.; Kocoshis, Samuel A.; Naiman, J. Lawrence; Windmiller, Joan; Lammi, Ahti T.; Hoffman, Ronald; Marsh, John C. (1979). "A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction". The Journal of Pediatrics. 95 (6): 976–84. doi:10.1016/S0022-3476(79)80286-3. PMID 501502.
^Rotig, A; Colonna, M; Bonnefont, J.P; Blanche, S; Fischer, A; Saudubray, J.M; Munnich, A (1989). "Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome". Lancet. 1 (8643): 902–3. doi:10.1016/S0140-6736(89)92897-3. PMID 2564980. S2CID 40198120.
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