Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis

Reddy, Jyothi Muni; Jose, Joe; Prakash, Anand; Devi, Shanthala

doi:10.24911/sjp.106-1534158413

Cited by 9 publications

(4 citation statements)

References 13 publications

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“…The diagnosis of Pearson syndrome is challenging due to the atypical presentation in infancy. It can be confirmed via mtDNA sequencing and observing multiple deletions of varying lengths [28]. Interestingly, these single large-scale mtDNA deletions can also be found in young patients with CPEO and KSS.…”

Section: Pearson Syndromementioning

confidence: 71%

Mitochondrial Chronic Progressive External Ophthalmoplegia

Ali,

Esmaeil,

Behbehani

2024

Brain Sciences

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(1) Background: Chronic progressive external ophthalmoplegia (CPEO) is a rare disorder that can be at the forefront of several mitochondrial diseases. This review overviews mitochondrial CPEO encephalomyopathies to enhance accurate recognition and diagnosis for proper management. (2) Methods: This study is conducted based on publications and guidelines obtained by selective review in PubMed. Randomized, double-blind, placebo-controlled trials, Cochrane reviews, and literature meta-analyses were particularly sought. (3) Discussion: CPEO is a common presentation of mitochondrial encephalomyopathies, which can result from alterations in mitochondrial or nuclear DNA. Genetic sequencing is the gold standard for diagnosing mitochondrial encephalomyopathies, preceded by non-invasive tests such as fibroblast growth factor-21 and growth differentiation factor-15. More invasive options include a muscle biopsy, which can be carried out after uncertain diagnostic testing. No definitive treatment option is available for mitochondrial diseases, and management is mainly focused on lifestyle risk modification and supplementation to reduce mitochondrial load and symptomatic relief, such as ptosis repair in the case of CPEO. Nevertheless, various clinical trials and endeavors are still at large for achieving beneficial therapeutic outcomes for mitochondrial encephalomyopathies. (4) Key Messages: Understanding the varying presentations and genetic aspects of mitochondrial CPEO is crucial for accurate diagnosis and management.

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Section: Pearson Syndromementioning

confidence: 71%

Mitochondrial Chronic Progressive External Ophthalmoplegia

Ali,

Esmaeil,

Behbehani

2024

Brain Sciences

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“…97 The clinical features often commence in infancy, with transfusion-dependent, pyridoxine-unresponsive sideroblastic anemia (usually macrocytic or normocytic) occurring in most patients before 1 year of age. 36 Pearson's original description of the condition included commentary on vacuolated erythroid and myeloid precursors in the bone marrow, as well as hemosiderosis and ringed sideroblasts. 8 These typical appearances are demonstrated in Figure 1.…”

Section: Pearson Syndromementioning

confidence: 99%

“…Pearson syndrome is generally caused by a single large deletion (1.1–10 kb in size) in the mitochondrial DNA, which usually arises de novo 97 . The clinical features often commence in infancy, with transfusion-dependent, pyridoxine-unresponsive sideroblastic anemia (usually macrocytic or normocytic) occurring in most patients before 1 year of age 36 . Pearson’s original description of the condition included commentary on vacuolated erythroid and myeloid precursors in the bone marrow, as well as hemosiderosis and ringed sideroblasts 8 .…”

Section: Pearson Syndromementioning

confidence: 99%

Hematologic Manifestations in Primary Mitochondrial Diseases

Selvanathan,

Teo,

Parayil Sankaran

2024

Journal of Pediatric Hematology/Oncology

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Primary mitochondrial disorders (PMDs) are known for their pleiotropic manifestations in humans, affecting almost any organ or system at any time. Hematologic manifestations, such as cytopenias and sideroblastic anemia, occur in 10% to 30% of patients with confirmed PMDs. These can be the initial presenting features or complications that develop over time. Surveillance for these manifestations allows for prompt identification and treatment. This article provides an overview of the pathophysiology underpinning the hematologic effects of mitochondrial dysfunction, discussing the 3 key roles of the mitochondria in hematopoiesis: providing energy for cell differentiation and function, synthesizing heme, and generating iron-sulfur clusters. Subsequently, the diagnosis and management of mitochondrial disorders are discussed, focusing on hematologic manifestations and the specific conditions commonly associated with them. Through this, we aimed to provide a concise point of reference for those considering a mitochondrial cause for a patient’s hematologic abnormality, or for those considering a hematologic manifestation in a patient with known or suspected mitochondrial disease.

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“…Pearson syndrome is caused by single mitochondrial DNA (mtDNA) deletions that affect oxidative phosphorylation. Due to the heteroplasmy phenomenon in mitochondrial diseases, single mtDNA deletions do not have a uniform tissue distribution, resulting in various phenotypes [ 2 ]. Pearson syndrome leads to pancytopenia, which manifests as anemia, neutropenia, and thrombocytopenia.…”

Section: Introductionmentioning

confidence: 99%

A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis

Shoeleh¹,

Donato²,

Galligan³

et al. 2023

Cureus

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Pearson marrow-pancreas syndrome is a rare multisystem mitochondrial disease that is a result of defective oxidative phosphorylation caused by mitochondrial DNA mutations. The average prognosis of infants diagnosed with this disease is death within four years of age. The disease often carries an atypical presentation during the neonatal period causing this rare syndrome to be frequently misdiagnosed. The current report details the diagnosis of Pearson syndrome in a three-month-old male with a history of pancytopenia.

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Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis

Cited by 9 publications

References 13 publications

Mitochondrial Chronic Progressive External Ophthalmoplegia

Mitochondrial Chronic Progressive External Ophthalmoplegia

Hematologic Manifestations in Primary Mitochondrial Diseases

A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis

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