mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Background

Pearson syndrome (PS) is a rare multisystem mitochondrial disorder of hematopoietic system, characterized by refractory sideroblastic anemia, pancytopenia, exocrine pancreatic insufficiency, and variable neurologic, hepatic, renal, and endocrine failure.

Case Presentation

We describe a six-month-old female infant with Pearson marrow syndrome who presented with neurological manifestations. She had several episodes of seizures. Hematopoietic abnormalities were macrocytic anemia and neutropenia. Bone marrow aspiration revealed a cellular marrow with marked vacuolization of erythroid and myeloid precursors. Analysis of mtDNA in peripheral blood showed 8.5 kb deletion that was compatible with the diagnosis of PS.

Conclusion

PS should be considered in infants with neurologic diseases, in patients with cytopenias, and also in patients with acidosis or refractory anemia.

Related collections

Most cited references 20

Record: found
Abstract: found
Article: not found

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome.

M. Tulinius, N-G Larsson, A Oldfors … (1990)

We have performed morphologic and biochemical studies in three pediatric cases of Kearns-Sayre syndrome. All cases had heteroplasmy with a high percentage of mitochondrial DNA (mtDNA) with deletion in muscle. The deletions were mapped to the same region of mtDNA but were of different sizes. The same type of deletion could also be detected in fibroblasts from all cases but the percentage was considerably lower. In two cases, an increase with time of the mutated mtDNA fraction in muscle was found and this increase paralleled the progression of the disease. Oximetric evaluation of respiratory-chain function in isolated muscle mitochondria showed a complex I deficiency in one case and was normal in the two other cases. Comparison of the fractional concentration of mtDNA with deletion in muscle and isolated mitochondria showed that the isolated mitochondria were not representative of the mitochondrial population in muscle. Mitochondria with high percentage of mtDNA with deletion were selectively lost. The finding of different mitochondrial populations is in good agreement with the morphology. One case spontaneously recovered from an infantile sideroblastic anemia before the development of Kearns-Sayre syndrome. The anemia was of the same type as that in Pearson's syndrome, a mitochondrial disorder with high amounts of mtDNA with deletion in blood cells. These findings indicate that the phenotype of a mtDNA deletion disorder can change with time and is governed by the fractional concentration of mtDNA with deletion in different tissues.

0 comments Cited 38 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

Caroline E. Brett, S Hammans, Richard Holt … (1990)

A patient is described who has features of Pearson syndrome and who presented in the neonatal period with a hypoplastic anemia. He later developed hepatic, renal, and exocrine pancreatic dysfunction. At the age of 5 years he developed visual impairment, tremor, ataxia, proximal muscle weakness, external ophthalmoplegia, and a pigmentary retinopathy (Kearns-Sayre syndrome). Muscle biopsy confirmed the diagnosis of mitochondrial myopathy. Analysis of mtDNA from leukocytes and muscle showed mtDNA heteroplasmy in both tissues, with one population of mtDNA deleted by 4.9 kb. The deleted region was bridged by a 13-nucleotide sequence occurring as a direct repeat in normal mtDNA. Both Pearson syndrome and Kearns-Sayre syndrome have been noted to be associated with deletions of mtDNA; they have not previously been described in the same patient. These observations indicate that the two disorders have the same molecular basis; the different phenotypes are probably determined by the initial proportion of deleted mtDNAs and modified by selection against them in different tissues.

0 comments Cited 19 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion.

Norma M. Wills, O Hurko, Lance Noll … (1999)

Kearns-Sayre syndrome (KSS) and Pearson's marrow-pancreas syndrome (PMPS) are rare disorders caused by the same molecular defect, one of several deletion mutations in mitochondrial DNA (mtDNA). KSS is an encephalomyopathy with ophthalmoplegia, retinal degeneration, ataxia, and endocrine abnormalities. PMPS is a disorder of childhood characterized by refractory anemia, vacuolization of bone marrow cells, and exocrine pancreas dysfunction. Children with PMPS that have a mild phenotype, or are supported through bone marrow failure, often develop the encephalomyopathic features of KSS. The subject of numerous reports in the neuromuscular, genetic, and pediatric literature in recent years, very few cases of either disorder have ever been studied at autopsy. We report the results of our studies of a patient with clinically documented KSS who presented with renal dysfunction and was found to have a novel mtDNA deletion and degenerative changes in the central nervous system, retina, skeletal muscle, and pancreas.

0 comments Cited 10 times – based on 0 reviews      Review now

Bookmark

All references

Author and article information

Journal

Journal ID (nlm-ta): Iran J Pediatr

Journal ID (iso-abbrev): Iran J Pediatr

Journal ID (publisher-id): IJPD

Title: Iranian Journal of Pediatrics

Publisher: Tehran University of Medical Sciences

ISSN (Print): 2008-2142

ISSN (Electronic): 2008-2150

Publication date (Print): March 2010

Volume: 20

Issue: 1

Pages: 107-112

Affiliations

[1 ]Department of Pediatric Hematology- Oncology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran

[2 ]Department of Pediatric Neurology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran

[3 ]National Institute for Genetic Engineering and Biotechnology(NIGEB), Tehran, IR Iran

[4 ]Pediatrics Center of Excellence, Children's Medical Center and Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, IR Iran

Author notes

[* ] Corresponding Author: Address: Department of Pediatric Hematology-Oncology, Mofid Children's Hospital, Tehran, Iran. E-mail: aziz_eghbali@ 123456yahoo.com

Article

Publisher ID: IJPD-20-107

PMC ID: 3445998

PubMed ID: 23056691

SO-VID: 1c5b36ad-a66b-4d03-ac0c-6acf77284c77

License:

This is an open-access article distributed under the terms of the Creative Commons Attribution NonCommercial 3.0 License (CC BY-NC 3.0), which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly.

mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome

Read this article at

Abstract

Background

Case Presentation

Conclusion

Related collections

Cures Within Reach: Autoimmune Lymphoproliferative Syndrome (ALPS)

Most cited references 20

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome.

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion.

Author and article information

Journal

Affiliations

Author notes

Article

History

Categories

Comments

Comment on this article

Similar content 351

Cited by 3

Most referenced authors 165