Pearson marrow pancreas syndrome: a molecular study and clinical management

• Published in: Clinical genetics Vol. 51; no. 5; pp. 338 - 342
• Main Authors: Seneca, Sara, Meirleir, Linda De, Scbepper, Jean De, Balduck, Nadine, Jochmans, Kristin, Liebaers, Inge, Lissens, Willy
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.05.1997; Blackwell
• Subjects: Abnormalities, Multiple - drug therapy; Abnormalities, Multiple - genetics; Acidosis, Lactic - drug therapy; Acidosis, Lactic - genetics; Biological and medical sciences; Blotting, Southern; Bone Marrow Diseases - genetics; Bone Marrow Diseases - pathology; Child, Preschool; Complex syndromes; Diarrhea - drug therapy; Diarrhea - genetics; dichloroacetate (DCA); DNA, Mitochondrial; Failure to Thrive - genetics; Humans; Male; Medical genetics; Medical sciences; mt DNA deletions; Pancreatic Diseases - drug therapy; Pancreatic Diseases - genetics; Pearson syndrome; Restriction Mapping; Sequence Deletion; Syndrome; Human; Genetic inheritance; Pearson syndrome; Metabolic diseases; Male; Mitochondrial DNA; Enzymopathy; Congenital disease; Mitochondrial disorder; Case study; Deletion; Complex syndrome; Child
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.1399-0004.1997.tb02484.x

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.