The neurological evolution of Pearson syndrome: Case report and literature review

Lee, Hsiu-Fen; Lee, Huei-Jane; Chi, Ching‐Shiang; Tsai, Chi-Ren; Chang, Te‐Kau; Wang, Chau‐Jong

doi:10.1016/j.ejpn.2006.12.008

Cited by 62 publications

(48 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The neurological examination can be abnormal very precociously, and in some cases, it is possible to document progression in the neurological disability. 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).…”

Section: Discussionmentioning

confidence: 99%

“…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%

“…Most infants reportedly die before 3 years of age (R€ otig et al 1995). In some cases, a phenotypic transformation to Leigh syndrome (LS) is observed (Santorelli et al 1996), characterized by dysphagia, hypotonia, ataxia, peripheral neuropathy, and ophthalmoparesis, or Kearns-Sayre syndrome (KSS) (Mcshane et al 1991;Lee et al 2007), characterized by progressive external ophthalmoplegia, retinopathy, ataxia, cardiac conduction abnormalities, and deafness.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

View full text Add to dashboard Cite

show abstract

“…PS with neurological manifestations is well described in older children [6,11]. Neurological findings are either nonspecific, including mainly hypotonia, developmental delay, ataxia and tremor, or typical KSS.…”

Section: Discussionmentioning

confidence: 99%

“…The typical clinical course is characterized by progressive liver failure and intractable metabolic acidosis, with death in infancy. Survivors later develop neurological symptoms, such as in Kearns-Sayre syndrome (KSS) [6].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2008

View full text Add to dashboard Cite

show abstract

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature

Wild

Goldstein

Muraresku

et al. 2019

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Pearson syndrome (PS) is a multisystem mitochondrial respiratory chain disorder typically characterized by sideroblastic anemia and exocrine pancreatic insufficiency. PS is caused by a single large‐scale mitochondrial DNA (mtDNA) deletion. PS classically presents in the first year of life and may be fatal in infancy. Children who survive PS may progress to develop Kearns–Sayre syndrome later in life. The full phenotypic spectrum and prognosis of the condition continue to evolve. Here we report five new patients with PS with unique clinical presentations, including four patients with onset later than previously reported in the literature, and one patient with prenatal onset of symptoms. The timing and unique features of these presentations support an expanded phenotypic spectrum of single large‐scale mtDNA deletion syndromes (SLSMDS) and reinforce the importance of including SLSMDS in the differential for children with complex multisystem presentations.

show abstract

The neurological evolution of Pearson syndrome: Case report and literature review

Cited by 62 publications

References 39 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)

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

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature

Contact Info

Product

Resources

About