Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)

Farruggia, Piero; Cataldo, Andrea Di; Pinto, Rita Maria; Palmisani, Elena; Macaluso, Alessandra; Valvo, Laura Lo; Cantarini, Maria Elena; Tornesello, Assunta; Cortí, Paola; Fioredda, Francesca; Varotto, Stefania; Martire, Baldo; Moroni, Isabella; Puccio, Giuseppe; Russo, Giovanna; Dufour, Carlo; Pillon, Marta

doi:10.1007/8904_2015_470

Cited by 46 publications

(53 citation statements)

References 17 publications

(15 reference statements)

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“…The prognosis of PS is poor. Eight of 11 children with PS in the study from Italy and 7 of 11 patients from the UK died due to sepsis or renal failure, similar to our patients with neonatal onset of PS. It may be of importance that these patients had neutropenia and the highest percentage of sideroblasts and ring sideroblasts.…”

Section: Discussionsupporting

confidence: 82%

Sideroblastic anemia associated with multisystem mitochondrial disorders

Tesařová

Vondráčková

Stufkova

et al. 2018

Pediatric Blood & Cancer

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Background Sideroblastic anemia represents a heterogeneous group of inherited or acquired diseases with disrupted erythroblast iron utilization, ineffective erythropoiesis, and variable systemic iron overload. In a cohort of 421 patients with multisystem mitochondrial diseases, refractory anemia was found in 8 children. Results Five children had sideroblastic anemia with increased numbers of ring sideroblasts >15%. Two of the children had a fatal course of MLASA1 syndrome (mitochondrial myopathy, lactic acidosis, and sideroblastic anemia [SA]) due to a homozygous, 6‐kb deletion in the PUS1 gene, part of the six‐member family of pseudouridine synthases (pseudouridylases). Large homozygous deletions represent a novel cause of presumed PUS1‐loss‐of‐function phenotype. The other three children with SA had Pearson syndrome (PS) due to mtDNA deletions of 4 to 8 kb; two of these children showed early onset of PS and died due to repeated sepsis; the other child had later onset of PS and survived as the hematological parameters normalized and the disease transitioned to Kearns–Sayre syndrome. In addition, anemia without ring sideroblasts was found in three other patients with mitochondrial disorders, including two children with later onset of PS and one child with failure to thrive, microcephaly, developmental delay, hypertrophic cardiomyopathy, and renal tubular acidosis due to the heterozygous mutations c.610A>G (p.Asn204Asp) and c.674C>T (p.Pro225Leu) in the COX10 gene encoding the cytochrome c oxidase assembly factor. Conclusions Sideroblastic anemia was found in fewer than 1.2% of patients with multisystem mitochondrial disease, and it was usually associated with an unfavorable prognosis.

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Section: Discussionsupporting

confidence: 82%

Sideroblastic anemia associated with multisystem mitochondrial disorders

Tesařová

Vondráčková

Stufkova

et al. 2018

Pediatric Blood & Cancer

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“…13 No parece existir relación entre el número de pares de bases afectados y la localización de estos en el genoma con el tipo de afectación clínica y la evolución. 8 No existe, actualmente, un tratamiento curativo y es frecuente el fallecimiento de estos pacientes (hasta un 50%) en los primeros 3 años de vida 7,11 a consecuencia de infecciones y complicaciones asociadas a las graves citopenias. 13 A partir de esta edad, el cuadro hematológico tiende a mejorar y la mortalidad se debe a otras complicaciones que presenta el síndrome de Pearson ( Tabla 2).…”

Section: Discussionunclassified

Anemia arregenerativa en el lactante: 2 casos de síndrome de Pearson

et al. 2017

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Presentación de casos clínicos RESUMEN La anemia es frecuente en lactantes, y, aunque su causa, habitualmente, es banal, debe establecerse un diagnóstico etiológico adecuado. Cuando la anemia es arregenerativa, puede deberse a aplasia medular, síndrome mielodisplásico, infiltración medular o déficits de factores hematopoyéticos. Otra posible causa es el síndrome de Pearson, una rara enfermedad mitocondrial que se presenta con anemia asociada a otras citopenias, insuficiencia pancreática, acidosis láctica y gran variabilidad en su presentación clínica condicionada por la heteroplasmia. Es característico encontrar en el aspirado/biopsia de médula ósea vacuolización de los precursores de serie roja y sideroblastos en anillo. El diagnóstico de certeza se establece mediante el estudio genético del ácido desoxirribonucleico mitocondrial con Southern blot (amplificación completa de ácido desoxirribonucleico mitocondrial mediante reacción en cadena de la polimerasa-largo), que obtiene deleción del 70%-80% de 4977 pb (DNAm 8343-13459). No existe tratamiento curativo y las medidas son de soporte. Es frecuente el fallecimiento en los primeros años de vida. Se presentan dos casos de lactantes con síndrome de Pearson.

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“…1 A recent study from Italy estimates incidence of PS as 1 in million births. 2 Patients present in infancy with transfusion dependent severe macrocytic anemia often associated with variable degrees of neutropenia, thrombocytopenia, metabolic acidosis and tissue dysfunction. 1,3 The early onset of severe anemia, variable penetrance and sporadic genetic inheritance make it difficult to differentiate PS from Diamond BLACKFAN Anemia (DBA).…”

Section: Introductionmentioning

confidence: 99%

Pearson syndrome masquerading diamond blackfan anemia: a case report

Bartakke

Sampagar

Kamate

et al. 2018

Int J Contemp Pediatr

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Pearson syndrome (PS) is rare and often fatal multisystemic mitochondrial disorder. Many of those who survive develop signs and symptoms later in life of a related disorder called Kearns-Sayre syndrome (KSS). 13-month-old male child presented with transfusion dependent anemia since the age of 3 months and was initially labeled as a case of Diamond Black fan Anemia. Mitochondrial and pancreatic enzyme replacement therapy. Through this case report, we attempt to address the fact that possibility of PS, which is often labeled as DBA in initial stages, should be considered in cases of congenital anemia of uncertain etiology. Early diagnosis of PS and interventional therapy in the form of mitochondrial and pancreatic replacement can significantly prolong survival and improve quality of life.

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Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)

Cited by 46 publications

References 17 publications

Sideroblastic anemia associated with multisystem mitochondrial disorders

Sideroblastic anemia associated with multisystem mitochondrial disorders

Anemia arregenerativa en el lactante: 2 casos de síndrome de Pearson

Pearson syndrome masquerading diamond blackfan anemia: a case report

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