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Pearson marrow pancreas syndrome: a molecular study and clinical management
S Seneca1, L De Meirleir, J De Schepper
1Department of Medical Genetics, Academisch Ziekenhuis (AZ-VUB), Vrije Universiteit Brussel, Brussels, Belgium.
Insights
Pearson syndrome, a mitochondrial DNA disorder, presents with failure to thrive and lactic acidosis. Treatment involves dichloroacetate (DCA), bicarbonate, and supportive care to manage multiorgan dysfunction.
Area of Science:
- Genetics
- Molecular Biology
- Pediatrics
Background:
- Mitochondrial DNA (mtDNA) lesions are linked to various degenerative disorders.
- Pearson syndrome is a rare mitochondrial disease affecting multiple organs.
Observation:
- A 5-year-old patient exhibited failure to thrive, chronic diarrhea, and lactic acidosis from infancy.
- Analysis revealed significant levels of mtDNA with a 2.7 kb deletion in all tissues.
- The patient later developed neutropenia, sideroblastic anemia, and hypoparathyroidism.
Findings:
- A large deletion in mitochondrial DNA (mtDNA) was identified as the cause of Pearson syndrome in this patient.
- Early diagnosis and intervention are crucial for managing complex symptoms.
- Dichloroacetate (DCA), bicarbonate, and supportive therapies stabilized the patient's condition.
Implications:
- This case highlights the importance of recognizing Pearson syndrome's diverse clinical manifestations.
- Effective management strategies can improve outcomes for patients with mitochondrial DNA disorders.
- Long-term supportive care is essential for stabilizing multiorgan dysfunction in Pearson syndrome.
Abstract:
Human mitochondrial DNA (mt DNA) lesions can cause a heterogeneous group of mitochondrial degenerative disorders. We report on a 5-year-old patient suffering from the full-blown picture of Pearson syndrome. His symptoms started in the first year of life with failure to thrive, followed by chronic diarrhoea and lactic acidosis at 18 months of age. Analysis of mitochondrial DNA revealed large amounts of mt DNA molecules with a 2.7 kb deletion in all tissues examined. The diagnosis of Pearson syndrome was made initially in the absence of haematological disturbances. In the following months neutropenia, sideroblastic anaemia and hypoparathyroidism developed. Daily administration of dichloroacetate (DCA) and bicarbonate controls the lactic acidosis, while episodic treatments with filgastrim (Neupogen) reverse episodes of severe neutropenia. Calcium and vitamin D supplementation compensate for the hypoparathyroidism. Chronic administration of DCA and supportive treatment for a long period help to stabilize patients with multiorgan dysfunction.