Pearson syndrome
Última actualización 25 Jul 2023
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Pearson syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs can also be affected.
Descripción
Pearson syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs can also be affected.
Most affected individuals have a shortage of red blood cells (anaemia), which can cause pale skin (pallor), weakness, and fatigue. Some of these individuals also have low numbers of white blood cells (neutropenia) and platelets (thrombocytopenia). Neutropenia can lead to frequent infections; thrombocytopenia sometimes causes easy bruising and bleeding. When visualized under the microscope, bone marrow cells from affected individuals may appear abnormal. Often, early blood cells (hematopoietic precursors) have multiple fluid-filled pockets called vacuoles. In addition, red blood cells in the bone marrow can have an abnormal buildup of iron that appears as a ring of blue staining in the cell after treatment with certain dyes. These abnormal cells are called ring sideroblasts.
In people with Pearson syndrome, the pancreas does not work as well as usual. The pancreas produces and releases enzymes that aid in the digestion of fats and proteins. Reduced function of this organ can lead to high levels of fats in the liver (liver steatosis). The pancreas also releases insulin, which helps maintain correct levels of blood glucose, also called blood sugar. A small number of individuals with Pearson syndrome develop diabetes, a condition characterised by abnormally high blood glucose levels that can be caused by a shortage of insulin. In addition, affected individuals may have scarring (fibrosis) in the pancreas.
People with Pearson syndrome have a reduced ability to absorb nutrients from the diet (malabsorption), and most affected infants have an inability to grow and gain weight at the expected rate (failure to thrive). Another common occurrence in people with this condition is buildup in the body of a chemical called lactic acid (lactic acidosis), which can be life-threatening. In addition, liver and kidney problems can develop in people with this condition. Some people with Pearson syndrome have droopy eyelids (ptosis), vision problems, hearing loss, seizures, or movement disorders.
About half of children with this severe disorder die in infancy or early childhood due to severe lactic acidosis or liver failure. Many of those who survive develop signs and symptoms later in life of a related disorder called Kearns-Sayre syndrome. This condition causes weakness of muscles around the eyes and other problems.
Patrones de herencia
The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.
Otros nombres
Pearson marrow-pancreas syndrome
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Lecturas adicionales y referencias
- Pearson syndrome; MedlinePlus, National Library of Medicine.
- Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit Metab Dis. 2015 May;38(3):445-57. doi: 10.1007/s10545-014-9778-4. Epub 2014 Oct 29.
- Manea EM, Leverger G, Bellmann F, Stanescu PA, Mircea A, Lebre AS, Rotig A, Munnich A. Pearson syndrome in the neonatal period: two case reports and review of the literature. J Pediatr Hematol Oncol. 2009 Dec;31(12):947-51. doi: 10.1097/MPH.0b013e3181bbc4ef.
- Rotig A, Bourgeron T, Chretien D, Rustin P, Munnich A. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet. 1995 Aug;4(8):1327-30. doi: 10.1093/hmg/4.8.1327.
- Sadikovic B, Wang J, El-Hattab AW, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LJ. Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One. 2010 Dec 20;5(12):e15687. doi: 10.1371/journal.pone.0015687.
- Tumino M, Meli C, Farruggia P, La Spina M, Faraci M, Castana C, Di Raimondo V, Alfano M, Pittala A, Lo Nigro L, Russo G, Di Cataldo A. Clinical manifestations and management of four children with Pearson syndrome. Am J Med Genet A. 2011 Dec;155A(12):3063-6. doi: 10.1002/ajmg.a.34288. Epub 2011 Oct 19.
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