Pearson Syndrome

Pearson Syndrome is included in the mitochondrial disorders with prevalence 1:4,300 newborns and 11.5/100,000 in the general population. Until recently they were in fact only 150 cases reported. This syndrome, as usual in mitochondrial diseases, in 75% of the cases is caused by nuclear DNA mutations and 25% by mutations in mitochondrial DNA, and in particular by Single large-scale mitochondrial DNA deletions – SLSMDs. Most of the reported cases are sporadic due to de novo mutations and rarely maternal mutations.

Clinical features

  • Neutropenia – reduced resistance to infections
  • Anemia
  • Thrombocytopenia
  • Failure to thrive
  • Kidney dysfunction
  • Hepatomegaly
  • Diabetes (sometimes)
  • Ataxia (sometimes)
  • Hypoparathyroidism (sometimes)
  • Splenomegaly (sometimes)
  • Ophthalmoplegia (sometimes)
  • Ptosis (sometimes)
  • Hearing loss (sometimes)
  • Retinopathy (sometimes)
  • Cardiomyopathy (sometimes)
  • Exocrine pancreatic defects
  • Psychomotor regression (sometimes)
  • Cardiac conduction defects (sometimes)

Diagnosis

  • Specialized biochemical and urinary tests
  • Muscle biopsy
  • Genetic test

Management

There is no cure so far, but drugs supporting the pancreatic function, fat soluble vitamins are prescribed (Α, D, E, K), transfusions, and infection and metabolic episodes’ management.

Useful links

  1. https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome
  2. https://ghr.nlm.nih.gov/condition/pearson-marrow-pancreas-syndrome
  3. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=699
  4. https://www.omim.org/entry/557000

Support groups

  1. https://www.mitoaction.org/
  2. https://www.umdf.org/

References

  1.  Farruggia P, Di Marco F, Dufour C. Pearson syndrome. Expert Rev Hematol. 2018; 11 (3): 239-246.
  2. Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N. Biochemical abnormalities in Pearson syndrome. Am J Med Genet A. 2015; 167A (3): 621-628.
  3. Sur L, Floca E, Samasca G, Lupan I, Aldea C, Sur G. Pearson Syndrome, A Medical Diagnosis Difficult to Sustain Without Genetic Testing. Clin Lab. 2018; 64 (3): 375-377.
  4. Tadiotto E, Maines E, Degani D, Balter R, Bordugo A, Cesaro S. Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature. Pediatr Blood Cancer. 2018; 65 (4): 10.1002/pbc.26939.
  5. Patel NA, Han E, Yannuzzi NA, et al. Delayed Onset of Retinopathy of Prematurity Associated With Mitochondrial Dysfunction and Pearson Syndrome. J Pediatr Ophthalmol Strabismus. 2019 56: e60-e64. Published 2019 Oct 17.
  6. Nilay M, Phadke SR. Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism [published online ahead of print, 2020 Jun 15]. Indian J Pediatr. 2020; 10.1007/s12098-020-03333-9.
  7. Pronman L, Rondinelli M, Burkardt DD, Velayuthan S, Khalili AS, Bedoyan JK. Pearson Syndrome: A Rare Cause of Failure to Thrive in Infants. Clin Pediatr (Phila). 2019; 58 (7): 819-824.

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