title: Therapeutic approach in a case of Pearson's syndrome.
abstract: Mitochondrial cytopathy is a multisystemic disease that requires different pharmacological and specialist approaches; although most therapies are usually of scarce effectiveness. We describe a clinical management of a very young girl with Pearson's syndrome that developed the symptoms of Kearns-Sayre syndrome. Many of symptoms were temporarily improved by the replacement therapy with hydrocortisone introduced to treat the partial adrenal insufficiency. During her life, she showed an ample clinical spectrum of symptoms because of multiple organs involvements: firstly bone marrow and, thereafter, brain, retina, inner ear, and kidney. Partial adrenal insufficiency, rarely described in mitochondrial disorders, was a distinctive characteristic of this case. When our patient was treated with hydrocortisone, in addition to ubiquinone and carnitine, the episodes of decompensation regressed and an improvement of the adrenal insufficiency, but only temporary reversion of the weakness of muscle, ophthalmoplegia and of the fatigue, were testified. Nevertheless, after a brief period of recovery, she developed the de Toni-Debré-Fanconi syndrome and the reappearance of the neurological symptoms.
authors.affiliation: Department of Paediatrics, University of Verona, Verona, Italy. marco.zaffanello@univr.it
authors.forename: M
authors.initials: M
authors.lastname: Zaffanello
authors.forename: G
authors.initials: G
authors.lastname: Zamboni
mesh_terms: D000140:Acidosis, Lactic / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D001855:Bone Marrow Diseases / Q000235:genetics / Q000473:pathology; D002118:Calcium / Q000627:therapeutic use; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics; D018450:Disease Progression; D004872:Ergocalciferols / Q000627:therapeutic use; D005198:Fanconi Syndrome / Q000188:drug therapy / Q000235:genetics; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000188:drug therapy / Q000235:genetics; D000077287:Levetiracetam; D009503:Neutropenia / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D018697:Nootropic Agents / Q000627:therapeutic use; D046790:Pancreas, Exocrine / Q000503:physiopathology; D010182:Pancreatic Diseases / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D010889:Piracetam / Q000031:analogs & derivatives / Q000627:therapeutic use; D017693:Sodium Bicarbonate / Q000627:therapeutic use; D013921:Thrombocytopenia / Q000150:complications / Q000188:drug therapy* / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D004872:Ergocalciferols; D018697:Nootropic Agents; D000077287:Levetiracetam; D017693:Sodium Bicarbonate; D002118:Calcium; D010889:Piracetam