De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report
<p>Abstract</p> <p>Introduction</p> <p>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.</p> <p>Case presentation</p> <p...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2009-11-01
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| Series: | Journal of Medical Case Reports |
| Online Access: | http://www.jmedicalcasereports.com/content/3/1/101 |
| _version_ | 1811294428844785664 |
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| author | Mihai Cristina Catrinoiu Doina Toringhibel Marius Stoicescu Ramona Hancu Anca |
| author_facet | Mihai Cristina Catrinoiu Doina Toringhibel Marius Stoicescu Ramona Hancu Anca |
| author_sort | Mihai Cristina |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Introduction</p> <p>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.</p> <p>Case presentation</p> <p>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.</p> <p>Conclusion</p> <p>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.</p> |
| first_indexed | 2024-04-13T05:16:25Z |
| format | Article |
| id | doaj.art-4973e9d0368648fdbdce1e5efdc64e22 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-04-13T05:16:25Z |
| publishDate | 2009-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-4973e9d0368648fdbdce1e5efdc64e222022-12-22T03:00:52ZengBMCJournal of Medical Case Reports1752-19472009-11-013110110.1186/1752-1947-3-101De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case reportMihai CristinaCatrinoiu DoinaToringhibel MariusStoicescu RamonaHancu Anca<p>Abstract</p> <p>Introduction</p> <p>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.</p> <p>Case presentation</p> <p>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.</p> <p>Conclusion</p> <p>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.</p>http://www.jmedicalcasereports.com/content/3/1/101 |
| spellingShingle | Mihai Cristina Catrinoiu Doina Toringhibel Marius Stoicescu Ramona Hancu Anca De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report Journal of Medical Case Reports |
| title | De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report |
| title_full | De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report |
| title_fullStr | De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report |
| title_full_unstemmed | De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report |
| title_short | De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report |
| title_sort | de toni debre fanconi syndrome in a patient with kearns sayre syndrome a case report |
| url | http://www.jmedicalcasereports.com/content/3/1/101 |
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