Early neurological impairment and severe anemia in a newborn with Pearson syndrome

Morel, Anne-Sophie; Joris, Nadia; Meuli, Reto; Jacquemont, Sébastien; Ballhausen, Diana; Bonafé, Luisa; Fattet, Sarah; Tolsa, Jean-François

doi:10.1007/s00431-008-0756-4

Cited by 17 publications

(9 citation statements)

References 10 publications

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“…Sometimes a final evolution to KSS (Mcshane et al 1991;Lee et al 2007) and LS (Santorelli et al 1996) can be documented. Neuroimaging is quite variable: from completely normal to severely abnormal findings of white matter, deep gray nuclei, cerebellum, and brainstem (Lee et al 2007;Morel et al 2009). Neurologic problems are quite frequent in our series (8/11), above all seizures and hypotonia, and three patients (27%) developed full KSS.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2015

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Pearson syndrome (PS) is a very rare and often fatal multisystemic mitochondrial disorder involving the liver, kidney, pancreas, and hematopoietic and central nervous system. It is characterized principally by a transfusion-dependent anemia that usually improves over time, a tendency to develop severe infections, and a high mortality rate. We describe a group of 11 PS patients diagnosed in Italy in the period 1993-2014. The analysis of this reasonably sized cohort of patients contributes to the clinical profile of the disease and highlights a rough incidence of 1 case/million newborns. Furthermore, it seems that some biochemical parameters like increased serum alanine and urinary fumaric acid can help to address an early diagnosis.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2015

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“…It is possible that, like for the clinical presentation, BM variability may be due to mtDNA heteroplasmy and a threshold effect. 4,6,20 In fact, in mitochondrial diseases, clinical expressivity depends on the abundance of mutant mtDNA (heteroplasmy), tissue distribution of mutant mtDNAs, and vulnerability of each tissue to impaired oxidative metabolism (threshold effect). 2,4,6 Nevertheless, the literature does not provide data on the degree of heteroplasmy in BM.…”

Section: Discussionmentioning

confidence: 99%

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

Tadiotto

Maines²,

Degani

et al. 2017

Pediatric Blood & Cancer

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Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with transfusion-dependent macrocytic anemia, exocrine pancreatic dysfunction, and lactic acidosis. Typical bone marrow (BM) features are vacuolization in hematopoietic progenitors, hypocellularity, and ringed sideroblasts. At the neonatal age, PS may have a variable clinical onset. Moreover, there is little information about BM features at this age and the timing of their presentation. We report a neonatal case of PS that presented with refractory anemia and atypical BM features. We reviewed the BM findings in neonatal-onset PS cases to stress the importance and limitations of BM evaluation at this age.

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“…Abnormal pancreatic tissue development is rare and can be syndromic as seen with Shwachman-Diamond syndrome (SDS), Johanson-Blizzard syndrome (JBS), or Pearson marrow-pancreas syndrome (PS) [22][23][24]. Both SDS and PS are characterized by hematological abnormalities and early pancreatic insufficiency although a recent French report describes two atypical cases of PS involving normal exocrine pancreatic function [25].…”

Section: Abnormal Pancreatic Developmentmentioning

confidence: 99%

Pancreatic Disease in Children and Adolescents

Jolley

2010

Curr Gastroenterol Rep

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Many childhood pancreatic disorders are rare, although they can represent significant and potentially severe disease. The spectrum of disease is very broad, ranging from the complex and bizarre congenital anomalies to the more typical acquired causes (e.g., drug-induced pancreatitis or trauma injury). Genetics appears to play a major role in many childhood pancreas diseases, unlike adults where alcohol is a major factor. Nevertheless, there are similarities, and most of the disorders discussed here can be found in both the pediatric and adult age groups. Some of these disorders may be evolving and may be seen in both young and older patients. Newer imaging modalities and therapeutic endoscopy continue to be studied, although their ultimate role and utility in children has yet to be fully elucidated.

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Early neurological impairment and severe anemia in a newborn with Pearson syndrome

Abstract: PS is a rare condition diagnosed in the newborn. It should be suspected in the presence of severe anemia and persistent lactic acidosis, and may manifest with early encephalopathy.

Cited by 17 publications

References 10 publications

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

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

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

Pancreatic Disease in Children and Adolescents

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