Pearson syndrome

Pearson syndrome [24] A refractory sideroblastic anemia, with variable neutropenia and thrombocytopenia, vacuolization of marrow precursors, and exocrine pancreatic dysfunction. Severe transfusion-dependent macrocytic anemia begins in early infancy (before 1 year) and the disease is fatal before 3 years in 62% of cases. Large-scale heteroplasmic deletions/duplications of mtDNA are constantly observed in affected and nonaffected organs. 

Pearson syndrome Systemic disorder of oxidative phosphorylation that predominantly affects bone marrow (same as above)... 

Pearson syndrome anaemia, pancreas dysfunction 557000 Large deletions... 

Tobwin, K.E., Dykens, E.M., Pearson, G.S., and Cohen, D.J. (1993) Conceptualizing borderline syndrome of childhood and childhood schizophrenia as a developmental disorder. / Am Acad Child Adolesc Psychiatry 32 775-782. 

Pearson, M.A., Hoyme, H.E., Seaver, L.H. Rimsza, M.E. (1994) Toluene embryopathy delineation of the phenotype and comparison with fetal alcohol syndrome. Pediatrics, 93, 211-215... 

Pearson s syndrome with pancytopenia Brain Ataxia Stroke Seizures Dementia Migraine Eye... 

Faich G, Pearson K, Fleming D, Sobel S, Anello C. Toxic shock syndrome and the vaginal contraceptive sponge. JAMA 1986 255(2) 216-18. 

Shwachman-Diamond syndrome, Johnson-Blizzard syndrome, Pearson bone marrow pancreas syndrome Gene mutations leading to pancreatic disease... 

Milder rearrangements (duplications) 2. Severe rearrangements (deletions) Maternally inherited adult-onset diabetes and deafness Adult-onset, Chronic Progressive External Ophthalmoplegia (CPEO), Keams-Sayre Syndrome (KSS), Lethal Childhood Disorders, Pearsons Marrow/Pancreas Syndrome... 

Large mtDNA deletions account for most cases of ocular myopathy and Pearson s marrow/pancreas syndrome. Ocular myopathy patients can exhibit a variety of clinical symptoms, from mild chronic progressive external ophthalmoplegia (CPEO) to Kearns-Sayre Syndrome (KSS). These diseases are characterized by an early onset of ophthalmoplegia, atypical retinitis pigmentosa, mitochondrial myopathy, and usually cerebellar syndrome and cardiac conduction abnormalities. More than 120 different mtDNA deletions have been identified from patients tissues. Partial duplications of mtDNA have been detected in ocular myopathy and Pearson s syndrome, however, duplications are much rarer than spontaneous deletions in patients with these conditions. Exactly how partial mtDNA duplications arise is unknown. 

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