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Mihai CM, Catrinoiu D, Toringhibel M, et al. De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report. J Med Case Rep. 2009;3:101doi: 10.1186/1752-1947-3-101.
Mihai, C. M., Catrinoiu, D., Toringhibel, M., Stoicescu, R. M., & Hancu, A. (2009). De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report. Journal of medical case reports, 3101. https://doi.org/10.1186/1752-1947-3-101
Mihai, Cristina Maria, et al. "De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report." Journal of medical case reports vol. 3 (2009): 101. doi: https://doi.org/10.1186/1752-1947-3-101
Mihai CM, Catrinoiu D, Toringhibel M, Stoicescu RM, Hancu A. De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report. J Med Case Rep. 2009 Nov 03;3:101. doi: 10.1186/1752-1947-3-101. PMID: 19946579; PMCID: PMC2783042.
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J Med Case Rep. 2009 Nov 03;3:101. doi: 10.1186/1752-1947-3-101.

De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report.

Journal of medical case reports

Cristina Maria Mihai, Doina Catrinoiu, Marius Toringhibel, Ramona Mihaela Stoicescu, Anca Hancu

Affiliations

  1. Pediatric Department for Diabetes, Nutrition and Metabolic Disorders in Children, 'Ovidius' University Constanta, Faculty of Medicine, 900591 Constanta, Romania.

PMID: 19946579 PMCID: PMC2783042 DOI: 10.1186/1752-1947-3-101

Abstract

INTRODUCTION: Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina.

CASE PRESENTATION: We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction defect, diabetes mellitus, hypoparathyroidism and hyperaldosteronism. The patient's evolution showed progressive insufficiency of the renal tubule: hyperphosphaturia, hyperaminoaciduria and, later, glucosuria (de Toni-Debré-Fanconi syndrome), a syndrome, to date, rarely diagnosed in association with complete Kearns-Sayre syndrome. The final diagnosis was delayed for several years and was only established when he developed diabetes mellitus. Southern blot analysis and polymerase chain reaction amplification revealed the presence of a deletion in the mitochondrial DNA.

CONCLUSION: DESPITE THE RARITY OF THIS SYNDROME, THE DIAGNOSIS WAS EASILY MADE DUE TO THE PRESENCE OF THE CLASSIC TRIAD: external ophthalmoplegia, pigmentary retinopathy and onset in a patient younger than 20 years old. In our opinion, a search for Kearns-Sayre syndrome in all patients with de Toni-Debré-Fanconi syndrome is a valuable medical routine.

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