Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome
Leukoencephalopathy with calcifications and cysts (LCC) is a triad of neuroradiological symptoms characteristic of Labrune syndrome, which was first described in 1996. For 20 years, the diagnosis was only based on clinical, neuroradiological and histopathological findings. Differential diagnosis inc...
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| Format: | Article |
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MDPI AG
2020-11-01
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| Series: | Brain Sciences |
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| Online Access: | https://www.mdpi.com/2076-3425/10/11/869 |
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| author | Magdalena Machnikowska-Sokołowska Jacek Pilch Justyna Paprocka Małgorzata Rydzanicz Agnieszka Pollak Joanna Kosińska Piotr Gasperowicz Katarzyna Gruszczyńska Ewa Emich-Widera Rafał Płoski |
| author_facet | Magdalena Machnikowska-Sokołowska Jacek Pilch Justyna Paprocka Małgorzata Rydzanicz Agnieszka Pollak Joanna Kosińska Piotr Gasperowicz Katarzyna Gruszczyńska Ewa Emich-Widera Rafał Płoski |
| author_sort | Magdalena Machnikowska-Sokołowska |
| collection | DOAJ |
| description | Leukoencephalopathy with calcifications and cysts (LCC) is a triad of neuroradiological symptoms characteristic of Labrune syndrome, which was first described in 1996. For 20 years, the diagnosis was only based on clinical, neuroradiological and histopathological findings. Differential diagnosis included a wide spectrum of diseases. Finally, in 2016, genetic mutation in the <i>SNORD118</i> gene was confirmed to cause Labrune syndrome. The authors describe a case of a teenage girl with progressive headaches, without developmental delay, presenting with calcifications and white matter abnormality in neuroimaging. Follow-up studies showed the progression of leukoencephalopathy and cyst formation. The first symptoms and initial imaging results posed diagnostic challenges. The final diagnosis was established based on genetic results. The authors discuss the possible therapy of LCC with Bevacizumab. |
| first_indexed | 2024-03-10T14:45:35Z |
| format | Article |
| id | doaj.art-2a91f57239c04607be92f5f49084ad90 |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-10T14:45:35Z |
| publishDate | 2020-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-2a91f57239c04607be92f5f49084ad902023-11-20T21:24:45ZengMDPI AGBrain Sciences2076-34252020-11-01101186910.3390/brainsci10110869Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune SyndromeMagdalena Machnikowska-Sokołowska0Jacek Pilch1Justyna Paprocka2Małgorzata Rydzanicz3Agnieszka Pollak4Joanna Kosińska5Piotr Gasperowicz6Katarzyna Gruszczyńska7Ewa Emich-Widera8Rafał Płoski9Department of Diagnostic Imaging, Radiology and Nuclear Medicine, Faculty of Medical Science in Katowice, Medical University of Silesia, 40-752 Katowice, PolandDepartment of Pediatric Neurology, Faculty of Medical Science in Katowice, Medical University of Silesia, 40-752 Katowice, PolandDepartment of Pediatric Neurology, Faculty of Medical Science in Katowice, Medical University of Silesia, 40-752 Katowice, PolandDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, PolandDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, PolandDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, PolandDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, PolandDepartment of Diagnostic Imaging, Radiology and Nuclear Medicine, Faculty of Medical Science in Katowice, Medical University of Silesia, 40-752 Katowice, PolandDepartment of Pediatric Neurology, Faculty of Medical Science in Katowice, Medical University of Silesia, 40-752 Katowice, PolandDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, PolandLeukoencephalopathy with calcifications and cysts (LCC) is a triad of neuroradiological symptoms characteristic of Labrune syndrome, which was first described in 1996. For 20 years, the diagnosis was only based on clinical, neuroradiological and histopathological findings. Differential diagnosis included a wide spectrum of diseases. Finally, in 2016, genetic mutation in the <i>SNORD118</i> gene was confirmed to cause Labrune syndrome. The authors describe a case of a teenage girl with progressive headaches, without developmental delay, presenting with calcifications and white matter abnormality in neuroimaging. Follow-up studies showed the progression of leukoencephalopathy and cyst formation. The first symptoms and initial imaging results posed diagnostic challenges. The final diagnosis was established based on genetic results. The authors discuss the possible therapy of LCC with Bevacizumab.https://www.mdpi.com/2076-3425/10/11/869Labrune syndrome<i>SNORD118</i> genemagnetic resonance imaging |
| spellingShingle | Magdalena Machnikowska-Sokołowska Jacek Pilch Justyna Paprocka Małgorzata Rydzanicz Agnieszka Pollak Joanna Kosińska Piotr Gasperowicz Katarzyna Gruszczyńska Ewa Emich-Widera Rafał Płoski Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome Brain Sciences Labrune syndrome <i>SNORD118</i> gene magnetic resonance imaging |
| title | Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome |
| title_full | Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome |
| title_fullStr | Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome |
| title_full_unstemmed | Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome |
| title_short | Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome |
| title_sort | leukoencephalopathy with calcifications and cysts the first polish patient with labrune syndrome |
| topic | Labrune syndrome <i>SNORD118</i> gene magnetic resonance imaging |
| url | https://www.mdpi.com/2076-3425/10/11/869 |
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