Neuroradiological findings in a young patient bearing a new single mitochondrial gene mutation (case report)
Abstract Background We present the clinical, MRI and CT findings in a case of a new mitochondrial genome mutation (tRNA arginine gene), characterized by brain calcifications which are indicative of Kearns–Sayre syndrome (KSS). Some radiological features resembled those of Fahr’s disease (affecting t...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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SpringerOpen
2022-11-01
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| Series: | Bulletin of the National Research Centre |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s42269-022-00914-w |
| _version_ | 1828098534680821760 |
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| author | Paolo La Montanara Annamaria Albergo Roberto Castellana Concetta Fiorentini Caterina Romano Annalisa Rossiello Moritz Steinruecke Giuseppe Vella |
| author_facet | Paolo La Montanara Annamaria Albergo Roberto Castellana Concetta Fiorentini Caterina Romano Annalisa Rossiello Moritz Steinruecke Giuseppe Vella |
| author_sort | Paolo La Montanara |
| collection | DOAJ |
| description | Abstract Background We present the clinical, MRI and CT findings in a case of a new mitochondrial genome mutation (tRNA arginine gene), characterized by brain calcifications which are indicative of Kearns–Sayre syndrome (KSS). Some radiological features resembled those of Fahr’s disease (affecting the PDGFRB gene). Case presentation A 36-year-old male presented some typical clinical features of KSS, including onset before 20 years of age, pigmentary retinopathy, progressive external ophthalmoplegia and ptosis. However, the hallmark radiological finding of diffuse calcifications in the nuclear ganglia resembles some cases related to the PDGRFB mutation. Genetic investigation revealed a new mutation in the mitochondrial tRNA-arginine gene. Conclusions Brain calcifications are a common feature of mitochondrial diseases, but little is known about their pathophysiology. Here, we describe radiological similarities between a new mitochondrial DNA mutation and other genetic conditions, which are related to Fahr’s disease. These similarities could provide new insights into putative genotype–phenotype correlations. |
| first_indexed | 2024-04-11T08:04:09Z |
| format | Article |
| id | doaj.art-d13864414f3f4fdeb532181256e87d5a |
| institution | Directory Open Access Journal |
| issn | 2522-8307 |
| language | English |
| last_indexed | 2024-04-11T08:04:09Z |
| publishDate | 2022-11-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Bulletin of the National Research Centre |
| spelling | doaj.art-d13864414f3f4fdeb532181256e87d5a2022-12-22T04:35:38ZengSpringerOpenBulletin of the National Research Centre2522-83072022-11-014611710.1186/s42269-022-00914-wNeuroradiological findings in a young patient bearing a new single mitochondrial gene mutation (case report)Paolo La Montanara0Annamaria Albergo1Roberto Castellana2Concetta Fiorentini3Caterina Romano4Annalisa Rossiello5Moritz Steinruecke6Giuseppe Vella7Department of Radiology, U.O.S.V.DDepartment of Radiology, U.O.S.V.DDepartment of Radiology, U.O.S.V.DDepartment of CardiologyDepartment of Radiology, U.O.S.V.DDepartment of Radiology, U.O.S.V.DImperial College School of MedicineDepartment of Radiology, U.O.S.V.DAbstract Background We present the clinical, MRI and CT findings in a case of a new mitochondrial genome mutation (tRNA arginine gene), characterized by brain calcifications which are indicative of Kearns–Sayre syndrome (KSS). Some radiological features resembled those of Fahr’s disease (affecting the PDGFRB gene). Case presentation A 36-year-old male presented some typical clinical features of KSS, including onset before 20 years of age, pigmentary retinopathy, progressive external ophthalmoplegia and ptosis. However, the hallmark radiological finding of diffuse calcifications in the nuclear ganglia resembles some cases related to the PDGRFB mutation. Genetic investigation revealed a new mutation in the mitochondrial tRNA-arginine gene. Conclusions Brain calcifications are a common feature of mitochondrial diseases, but little is known about their pathophysiology. Here, we describe radiological similarities between a new mitochondrial DNA mutation and other genetic conditions, which are related to Fahr’s disease. These similarities could provide new insights into putative genotype–phenotype correlations.https://doi.org/10.1186/s42269-022-00914-wKearns–Sayre syndromeMitochondriopathyBasal gangliaBrain calcificationsCase report |
| spellingShingle | Paolo La Montanara Annamaria Albergo Roberto Castellana Concetta Fiorentini Caterina Romano Annalisa Rossiello Moritz Steinruecke Giuseppe Vella Neuroradiological findings in a young patient bearing a new single mitochondrial gene mutation (case report) Bulletin of the National Research Centre Kearns–Sayre syndrome Mitochondriopathy Basal ganglia Brain calcifications Case report |
| title | Neuroradiological findings in a young patient bearing a new single mitochondrial gene mutation (case report) |
| title_full | Neuroradiological findings in a young patient bearing a new single mitochondrial gene mutation (case report) |
| title_fullStr | Neuroradiological findings in a young patient bearing a new single mitochondrial gene mutation (case report) |
| title_full_unstemmed | Neuroradiological findings in a young patient bearing a new single mitochondrial gene mutation (case report) |
| title_short | Neuroradiological findings in a young patient bearing a new single mitochondrial gene mutation (case report) |
| title_sort | neuroradiological findings in a young patient bearing a new single mitochondrial gene mutation case report |
| topic | Kearns–Sayre syndrome Mitochondriopathy Basal ganglia Brain calcifications Case report |
| url | https://doi.org/10.1186/s42269-022-00914-w |
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