Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature

Tadiotto, Elisa; Maines, Evelina; Degani, Daniela; Balter, Rita; Bordugo, Andrea; Cesaro, Simone

doi:10.1002/pbc.26939

Cited by 18 publications

(12 citation statements)

References 20 publications

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“…The diagnosis of PS in newborns is often difficult, because its clinical features may overlap with infectious, neuromuscular, hematological, metabolic, or digestive diseases (8,14). Hepatomegaly, liver dysfunction, anemia and lactic acidosis were chronic but non-pathognomonic presentations in this patient.…”

Section: Discussionmentioning

confidence: 78%

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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Section: Discussionmentioning

confidence: 78%

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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“…Some children develop neutropenia and/or thrombocytopenia during the course of the disease. Pancytopenia was reported as an initial symptom in some cases ( Falcon and Howard, 2017 ; Tadiotto et al, 2018 ). In this case, the patient’s initial presentation was an episode of moderate anemia.…”

Section: Discussionmentioning

confidence: 99%

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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“…Most infants with this condition die before 3 years of age 1 . The establishment of an appropriate diagnosis of PS in newborns is often difficult because its clinical features usually overlap with other common diseases, and typical bone marrow features, such as vacuolization in hematopoietic progenitors and ringed sideroblasts, may be entirely or partially lacking 2 . Diamond–Blackfan anemia (DBA) is characterized by severe hyporegenerative macrocytic anemia, congenital malformations, and growth retardation.…”

Section: Figmentioning

confidence: 99%

A useful method to diagnose Pearson syndrome mimicking Diamond–Blackfan anemia

Nishimura

Yamada

Utoyama

et al. 2021

Pediatrics International

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Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature

Cited by 18 publications

References 20 publications

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

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

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

A useful method to diagnose Pearson syndrome mimicking Diamond–Blackfan anemia

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