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

Journal of Medical Case Reports
Cristina Maria MihaiAnca Hancu

Abstract

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. 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. 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-Fanc...Continue Reading

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Citations

Aug 30, 2013·The Tohoku Journal of Experimental Medicine·Josef Finsterer, Stefan Lässer
May 19, 2017·Biomedical Reports·Josef Finsterer, Fulvio Alexandre Scorza
Jan 12, 2020·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Larissa P GoversDetlef Bockenhauer
Dec 12, 2020·KI Reports·Anne M SchijvensMichiel F Schreuder

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Methods Mentioned

BETA
biopsy

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