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Pearson syndrome

MedGen UID:
87459
Concept ID:
C0342784
Disease or Syndrome
Synonyms: Pearson marrow-pancreas syndrome; Pearson's marrow/pancreas syndrome; Pearson's syndrome; Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction
SNOMED CT: Pearson syndrome (237985009); Pearson's syndrome (237985009)
Modes of inheritance:
Mitochondrial inheritance
MedGen UID:
165802
Concept ID:
C0887941
Genetic Function
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0010797
OMIM®: 557000
Orphanet: ORPHA699

Disease characteristics

Single large-scale mitochondrial DNA deletion syndromes (SLSMDSs) comprise overlapping clinical phenotypes including Kearns-Sayre syndrome (KSS), KSS spectrum, Pearson syndrome (PS), chronic progressive external ophthalmoplegia (CPEO), and CPEO-plus. KSS is a progressive multisystem disorder with onset before age 20 years characterized by pigmentary retinopathy, CPEO, and cardiac conduction abnormality. Additional features can include cerebellar ataxia, tremor, intellectual disability or cognitive decline, dementia, sensorineural hearing loss, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, and endocrinopathies. Brain imaging typically shows bilateral lesions in the globus pallidus and white matter. KSS spectrum includes individuals with KSS in addition to individuals with ptosis and/or ophthalmoparesis and at least one of the following: retinopathy, ataxia, cardiac conduction defects, hearing loss, growth deficiency, cognitive impairment, tremor, or cardiomyopathy. Compared to CPEO-plus, individuals with KSS spectrum have more severe muscle involvement (e.g., weakness, atrophy) and overall have a worse prognosis. PS is characterized by pancytopenia (typically transfusion-dependent sideroblastic anemia with variable cell line involvement), exocrine pancreatic dysfunction, poor weight gain, and lactic acidosis. PS manifestations also include renal tubular acidosis, short stature, and elevated liver enzymes. PS may be fatal in infancy due to neutropenia-related infection or refractory metabolic acidosis. CPEO is characterized by ptosis, ophthalmoplegia, oropharyngeal weakness, variable proximal limb weakness, and/or exercise intolerance. CPEO-plus includes CPEO with additional multisystemic involvement including neuropathy, diabetes mellitus, migraines, hypothyroidism, neuropsychiatric manifestations, and optic neuropathy. Rarely, an SLSMDS can manifest as Leigh syndrome, which is characterized as developmental delays, neurodevelopmental regression, lactic acidosis, and bilateral symmetric basal ganglia, brain stem, and/or midbrain lesions on MRI. [from GeneReviews]
Authors:
Amy Goldstein  |  Marni J Falk   view full author information

Additional description

From MedlinePlus Genetics
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 (anemia), 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 characterized 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.  https://medlineplus.gov/genetics/condition/pearson-syndrome

Clinical features

From HPO
Hypercalciuria
MedGen UID:
43775
Concept ID:
C0020438
Finding
Abnormally high level of calcium in the urine.
Renal Fanconi syndrome
MedGen UID:
137960
Concept ID:
C0341703
Disease or Syndrome
An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.
3-Methylglutaric aciduria
MedGen UID:
463302
Concept ID:
C3151952
Finding
An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.
Complex organic aciduria
MedGen UID:
463303
Concept ID:
C3151953
Finding
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Steatorrhea
MedGen UID:
20948
Concept ID:
C0038238
Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Liver failure
MedGen UID:
88444
Concept ID:
C0085605
Disease or Syndrome
A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.
Pancreatic fibrosis
MedGen UID:
120607
Concept ID:
C0267952
Disease or Syndrome
Exocrine pancreatic insufficiency
MedGen UID:
75647
Concept ID:
C0267963
Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Villous atrophy
MedGen UID:
154306
Concept ID:
C0554101
Finding
The enteric villi are atrophic or absent.
Macronodular cirrhosis
MedGen UID:
384466
Concept ID:
C2004456
Disease or Syndrome
A type of cirrhosis characterized by the presence of large regenerative nodules.
Malabsorption
MedGen UID:
811453
Concept ID:
C3714745
Finding
Impaired ability to absorb one or more nutrients from the intestine.
Anorexia
MedGen UID:
315
Concept ID:
C0003123
Disease or Syndrome
Anorexia, or the loss of appetite for food, is a medical condition.
Lethargy
MedGen UID:
7310
Concept ID:
C0023380
Sign or Symptom
A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Sideroblastic anemia
MedGen UID:
8067
Concept ID:
C0002896
Disease or Syndrome
Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Hypoplastic anemia
MedGen UID:
64229
Concept ID:
C0178416
Disease or Syndrome
Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.
Reticulocytopenia
MedGen UID:
167812
Concept ID:
C0858867
Finding
A reduced number of reticulocytes in the peripheral blood.
Refractory sideroblastic anemia
MedGen UID:
1645785
Concept ID:
C4551661
Disease or Syndrome
A type of sideroblastic anemia that is not responsive to treatment.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Punctate keratitis
MedGen UID:
736733
Concept ID:
C1562761
Disease or Syndrome
A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.
Lactic acidosis
MedGen UID:
1717
Concept ID:
C0001125
Disease or Syndrome
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Dehydration
MedGen UID:
8273
Concept ID:
C0011175
Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
Diabetes mellitus type 1
MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Hyperbilirubinemia
MedGen UID:
86321
Concept ID:
C0311468
Finding
An increased amount of bilirubin in the blood.
Elevated hepatic transaminase
MedGen UID:
338525
Concept ID:
C1848701
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Pallor
MedGen UID:
10547
Concept ID:
C0030232
Finding
Abnormally pale skin.
Erythema
MedGen UID:
11999
Concept ID:
C0041834
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Hydrops fetalis
MedGen UID:
6947
Concept ID:
C0020305
Disease or Syndrome
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Pearson syndrome in Orphanet.

Professional guidelines

PubMed

Akesson LS, Eggers S, Love CJ, Chong B, Krzesinski EI, Brown NJ, Tan TY, Richmond CM, Thorburn DR, Christodoulou J, Hunter MF, Lunke S, Stark Z
Eur J Hum Genet 2019 Dec;27(12):1821-1826. Epub 2019 Jul 29 doi: 10.1038/s41431-019-0477-3. PMID: 31358953Free PMC Article
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Hum Mol Genet 1994 Nov;3(11):1989-97. doi: 10.1093/hmg/3.11.1989. PMID: 7874116

Recent clinical studies

Etiology

Ardissone A, Ferrera G, Lamperti C, Tiranti V, Ghezzi D, Moroni I, Lamantea E
Eur J Neurol 2023 Jul;30(7):2079-2091. Epub 2023 Apr 25 doi: 10.1111/ene.15814. PMID: 37038312
Tesarova M, Vondrackova A, Stufkova H, Veprekova L, Stranecky V, Berankova K, Hansikova H, Magner M, Galoova N, Honzik T, Vodickova E, Stary J, Zeman J
Pediatr Blood Cancer 2019 Apr;66(4):e27591. Epub 2018 Dec 26 doi: 10.1002/pbc.27591. PMID: 30588737
Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S
J Inherit Metab Dis 2015 May;38(3):445-57. Epub 2014 Oct 29 doi: 10.1007/s10545-014-9778-4. PMID: 25352051Free PMC Article
Thorburn DR, Dahl HH
Am J Med Genet 2001 Spring;106(1):102-14. doi: 10.1002/ajmg.1380. PMID: 11579429
De Vivo DC
Brain Dev 1993 Jan-Feb;15(1):1-22. doi: 10.1016/0387-7604(93)90002-p. PMID: 8338207

Diagnosis

Ardissone A, Ferrera G, Lamperti C, Tiranti V, Ghezzi D, Moroni I, Lamantea E
Eur J Neurol 2023 Jul;30(7):2079-2091. Epub 2023 Apr 25 doi: 10.1111/ene.15814. PMID: 37038312
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC
Orphanet J Rare Dis 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. PMID: 36253820Free PMC Article
Son JS, Seo GH, Kim YM, Kim GH, Jin HK, Bae JS, Im HJ, Yoo HW, Lee BH
Medicine (Baltimore) 2022 Feb 4;101(5):e28793. doi: 10.1097/MD.0000000000028793. PMID: 35119049Free PMC Article
Nilay M, Phadke SR
Indian J Pediatr 2020 Dec;87(12):1070-1072. Epub 2020 Jun 15 doi: 10.1007/s12098-020-03333-9. PMID: 32537709
Mkaouar-Rebai E, Chamkha I, Mezghani N, Ben Ayed I, Fakhfakh F
Mitochondrial DNA 2013 Jun;24(3):163-78. Epub 2013 Jan 9 doi: 10.3109/19401736.2012.748045. PMID: 23301511

Therapy

Frączkiewicz J, Sęga-Pondel D, Kazanowska B, Ussowicz M
J Pediatr Hematol Oncol 2020 Mar;42(2):113-117. doi: 10.1097/MPH.0000000000001528. PMID: 31205222
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Mol Genet Metab 2012 Dec;107(4):690-9. Epub 2012 Sep 28 doi: 10.1016/j.ymgme.2012.09.023. PMID: 23084792
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Mol Genet Metab 2012 May;106(1):104-7. Epub 2012 Jan 28 doi: 10.1016/j.ymgme.2012.01.018. PMID: 22424738
Kefala-Agoropoulou K, Roilides E, Lazaridou A, Karatza E, Farmaki E, Tsantali H, Augoustides-Savvopoulou P, Tsiouris J
Hematology 2007 Dec;12(6):549-53. doi: 10.1080/10245330701400900. PMID: 17852457
Lacbawan F, Tifft CJ, Luban NL, Schmandt SM, Guerrera M, Weinstein S, Pennybacker M, Wong LJ
Am J Med Genet 2000 Nov 27;95(3):266-8. PMID: 11102933

Prognosis

Ardissone A, Ferrera G, Lamperti C, Tiranti V, Ghezzi D, Moroni I, Lamantea E
Eur J Neurol 2023 Jul;30(7):2079-2091. Epub 2023 Apr 25 doi: 10.1111/ene.15814. PMID: 37038312
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC
Orphanet J Rare Dis 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. PMID: 36253820Free PMC Article
Hernández-Ainsa C, López-Gallardo E, García-Jiménez MC, Climent-Alcalá FJ, Rodríguez-Vigil C, García Fernández de Villalta M, Artuch R, Montoya J, Ruiz-Pesini E, Emperador S
Dis Model Mech 2022 Mar 1;15(3) doi: 10.1242/dmm.049083. PMID: 35191981Free PMC Article
Son JS, Seo GH, Kim YM, Kim GH, Jin HK, Bae JS, Im HJ, Yoo HW, Lee BH
Medicine (Baltimore) 2022 Feb 4;101(5):e28793. doi: 10.1097/MD.0000000000028793. PMID: 35119049Free PMC Article
Farruggia P, Di Marco F, Dufour C
Expert Rev Hematol 2018 Mar;11(3):239-246. Epub 2018 Jan 23 doi: 10.1080/17474086.2018.1426454. PMID: 29337599

Clinical prediction guides

Hernández-Ainsa C, López-Gallardo E, García-Jiménez MC, Climent-Alcalá FJ, Rodríguez-Vigil C, García Fernández de Villalta M, Artuch R, Montoya J, Ruiz-Pesini E, Emperador S
Dis Model Mech 2022 Mar 1;15(3) doi: 10.1242/dmm.049083. PMID: 35191981Free PMC Article
Son JS, Seo GH, Kim YM, Kim GH, Jin HK, Bae JS, Im HJ, Yoo HW, Lee BH
Medicine (Baltimore) 2022 Feb 4;101(5):e28793. doi: 10.1097/MD.0000000000028793. PMID: 35119049Free PMC Article
Reynolds E, Byrne M, Ganetzky R, Parikh S
Mol Genet Metab 2021 Dec;134(4):301-308. Epub 2021 Nov 14 doi: 10.1016/j.ymgme.2021.11.004. PMID: 34862134
Nishimura A, Hirabayashi S, Hasegawa D, Yoshida K, Shiraishi Y, Ashiarai M, Hosoya Y, Fujiwara T, Harigae H, Miyano S, Ogawa S, Manabe A
Pediatr Blood Cancer 2021 Feb;68(2):e28799. Epub 2020 Nov 16 doi: 10.1002/pbc.28799. PMID: 33200495
Finsterer J
Acta Haematol 2007;118(2):88-98. Epub 2007 Jul 18 doi: 10.1159/000105676. PMID: 17637511

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