Pearson Syndrome: A Rare Cause of Failure to Thrive in Infants

Pronman, Lauren; Rondinelli, Monica; Burkardt, Deepika D’Cunha; Velayuthan, Sujithra; Khalili, Ali Salar; Bedoyan, Jirair K.

doi:10.1177/0009922819834285

Cited by 8 publications

(7 citation statements)

References 32 publications

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“…Renal disorders (42.5%)was mainly manifested as Fanconi syndrome, characterized by aminoaciduria, proteinuria, diabetes mellitus, and electrolyte disturbance, with increased renal volume on Ultrasonography ( McShane et al, 1991 ; Lichter-Konecki et al, 1993 ; Santorelli et al, 1996 ; Crippa et al, 2015 ). The percentage of renal disorder, pancreatic exocrine insufficiency and cardiac disease were similar to those reported by literature ( Pronman et al, 2009 ). Mitochondrial inheritance is characterized by heteroplasmy and threshold effect, leading to diverse clinical phenotypes.…”

Section: Discussionsupporting

confidence: 90%

“…Based on the literature review, hematological symptoms was present in all patients, presented as anemia with or without neutropenia and/or thrombocytopenia. It was reported that the percentage of anemia, neutropenia and thrombocytopenia was 98%, 67% and 73%, respectively ( Pronman et al, 2009 ). Bone marrow aspiration reveals ring sideroblasts or vacuolization of bone marrow precursor cells.…”

Section: Discussionmentioning

confidence: 99%

“…The true incidence of PS is still unknown. The current literature regarding PS mainly were individual reports and some reports summarized the clinical features ( Manea et al, 2009 ; Pronman et al, 2019 ). There is a lack of large sample systematic analyses of the clinical features and the relationship between mtDNA mutations and clinical features.…”

Section: Introductionmentioning

confidence: 99%

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Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients

2022

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Background: Pearson’s syndrome (PS) is a rare multi-system disorder caused by mitochondrial DNA deletion. Most PS cases in the literature are individual reports, and there is a lack of systematic analysis of clinical features and gene mutations in large samples.Objective: To report a case of PS and summarize the clinical features and genetic characteristics of PS by reviewing the literature.Methods: We reported a case of PS in a boy with severe anemia and multi-system disorder. Genetic etiology was identified by mitochondrial DNA sequencing and whole-exon sequencing. Clinical features and gene mutations were summarized by literature review.Results: The patient had major clinical manifestations with recurrent anemia and multiple organ failure after infection. Mitochondrial DNA sequencing revealed a de novo heteroplasmic deletion of 3.063 kb (nt 6,224–9,287) with 75% heteroplasmy in peripheral blood. A total of 139 PS cases were retrieved after a literature search. The most common initial symptom was refractory anemia requiring repeated blood transfusion (86.2%), digestive system symptoms (26.9%), and failure to thrive (15.4%). During the course of disease, the observed symptoms were bone marrow failure (100%), metabolic disorders (61.87%) and gastrointestinal symptoms (61.87%), failure to thrive (48.9%), renal disorders (42.45%), and pancreatic exocrine insufficiency (39.6%). The mean heteroplasmy of mitochondrial DNA mutation in peripheral blood in deaths (76.29 ± 11.86%, n = 29) was higher than that in survivals (59.92 ± 23.87%, n = 26, p < 0.01). Among the patients with the 4.977 kb deletion, the heteroplasmy in peripheral blood in deaths (79.64 ± 9.71%, n = 11) was higher than that in survivals (56.67 ± 27.65%, n = 9, p < 0.05).Conclusion: PS can affect multiple systems, and mitochondrial DNA sequencing should be performed early. The heteroplasmy in peripheral blood is related to prognosis.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients

2022

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“…The diagnosis of PS syndrome depends on mtDNA analysis (7). To the best of our knowledge, the reported PS cases were rather limited in number, and up to date, about 109 PS patients were reported, including 52 ones with infant onset (6,(9)(10)(11)(12). Here, we reported a rare and challenging case with atypical clinical presentation soon after birth, which was definitely diagnosed by mtDNA analysis.…”

Section: Introductionmentioning

confidence: 84%

Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report

Song

2021

Transl Pediatr

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Pearson syndrome (PS), also known as Pearson marrow-pancreas syndrome, is a rare, multisystemic disorder caused by large-scale deletion of mitochondrial DNA (mtDNA) ranging from 2.3 kb to 9 kb, with 4,977 bp in length as the most common variant. This paper reported a novel mtDNA deletion of 4,734 bp in size, spanning from nucleotide 11,220 to 15,953. The infant suffered from chronic hepatomegaly, liver dysfunction, anemia and lactic acidosis over 1 year. Evidences of any infections were negative. Bone marrow aspiration and whole exome sequencing covering nearly 20,000 nucleus genes were performed when aged 3.3 and 6 months, respectively, but no genetic cause was identified. However, at his age 13 months, multiplex ligation-dependent probe amplification assay of the mtDNA in the patient detected a large deletion of 4,734 bp in size spanning the mitochondrial genes MTND4, MTTH, MTTS2, MTTL2, MTND5, MTND6, MTTE, MTCYB and MTTT which were functionally crucial for the intact oxidative phosphorylation pathway and adenosine triphosphate production, and PS was thus definitely diagnosed. This large deletion was negative in his parents and elder brother. Oral ursodeoxycholic acid, fat-soluble vitamins and blood transfusions were administrated, his clinical and laboratory presentations remained stable so far, but the long-term prognosis needed to be followed up. These findings enriched the variant spectrum of mtDNA, and demonstrated the importance of considering mitochondrial disorder in patient with intractable anemia, liver dysfunction and lactic acidosis as well as the significance of appropriate choosing of relevant genetic tools in the etiology diagnosis of such patients.

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“…(1991) ; Davison et al. (2019) ; Pronman et al. (2019) 3 Myoclonic Epilepsy with Ragged Red Fibres (MERRF) m.8344A > G; m.8356T > C; m.8363G > A m.5703G > A; m.3291T > C; m.4279A > G; Myopathy, cerebellar Ataxia, dementia and Myoclonus.…”

Section: Mitochondrial Disordersmentioning

confidence: 99%

Development of mitochondrial replacement therapy: A review

Sharma

Singh

Mahant

et al. 2020

Heliyon

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Mitochondrial replacement therapy (MRT) is a new form of reproductive invitro fertilization (IVF) which works on the principle of replacing a women's abnormal mitochondrial DNA (mt-DNA) with the donor's healthy one. MRT include different techniques like spindles transfer (ST), pronuclear transfer (PNT) or polar body transfer (PBT). Transmission of defective mitochondrial DNA to the next generation can also be prevented by using these approaches. The development of healthy baby free from genetic disorders and to terminate the lethal mitochondrial disorders are the chief motive of this technique. In aged individuals, through in vitro fertilization, MRT provides the substitution of defective cytoplasm with cured one to enhance the expectation of pregnancy rates. However, moral, social, and cultural objections have restricted its exploration. Therefore, this review summarizes the various methods involved in MRT, its global status, its exaggerated censure over the years which depicts a strong emphasis for social acceptance and clinical application in the world of medical science.

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Pearson Syndrome: A Rare Cause of Failure to Thrive in Infants

Cited by 8 publications

References 32 publications

Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients

Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients

Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report

Development of mitochondrial replacement therapy: A review

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