Clinical aspects of PMPS

PMPS usually presents within the first few months of life with hypoproliferative SA, variable cytopenias and pancreatic exocrine dysfunction. Bone marrow examination reveals, in addition to ring sideroblasts, striking vacuolation of the erythroid and myeloid precursors (Plate 12.1). Metabolic acidosis is another frequent manifestation, and renal disease, liver failure, hypoparathyroidism and diabetes mellitus may also occur. Despite treatment with blood products, pancreatic enzymes and various vitamins (e.g. coenzyme Q), about half of the patients do not survive beyond the third year of life. Of the patients who do survive, most develop complications in other organs, particularly ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy; that is, the features originally described as the Kearns-Sayre syndrome (KSS). The overlap between PMPS and KSS is not surprising, since similar genetic lesions are found in both conditions (see below).

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