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


METHODS
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.


CONCLUSIONS
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.
Mihai
Cristina Maria
CM
Pediatric Department for Diabetes, Nutrition and Metabolic Disorders in Children, 'Ovidius' University Constanta, Faculty of Medicine, 900591 Constanta, Romania.
Catrinoiu
Doina
D
Toringhibel
Marius
M
Stoicescu
Ramona Mihaela
RM
Hancu
Anca
A