The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined as an autosomal recessive inheritance disorder characterized by slowly progressive cerebellar, pyramidal and dorsal column dysfunction. The diagnosis is based on specific magnetic resonance imagin...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2018-04-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/844 |
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| author | Dilek Çavuşoğlu Nihal Olgaç-Dündar Özgür Öztekin Taha Reşid Özdemir Pınar Arıcan Pınar Gençpınar |
| author_facet | Dilek Çavuşoğlu Nihal Olgaç-Dündar Özgür Öztekin Taha Reşid Özdemir Pınar Arıcan Pınar Gençpınar |
| author_sort | Dilek Çavuşoğlu |
| collection | DOAJ |
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Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined as an autosomal recessive inheritance disorder characterized by slowly progressive cerebellar, pyramidal and dorsal column dysfunction. The diagnosis is based on specific magnetic resonance imaging abnormalities (MRI) in the cerebral and cerebellar white matter and selective involvement of white matter tracts in the brain stem and spinal cord. LBSL is caused by mutations in the DARS2 gene which encodes the mitochondrial aspartyl-tRNA synthetase. Herein, we report the first pediatric case from Turkey with a typical MRI course of LBSL associated with a compound heterozygous mutation in DARS2 gene.
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| format | Article |
| id | doaj-art-e7f4925ea0024a69aedffbc504ee98fa |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2018-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-e7f4925ea0024a69aedffbc504ee98fa2025-08-20T02:55:38ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212018-04-0160210.24953/turkjped.2018.02.018The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from TurkeyDilek Çavuşoğlu0Nihal Olgaç-Dündar1Özgür Öztekin2Taha Reşid Özdemir3Pınar Arıcan4Pınar Gençpınar5Department of Pediatric Neurology, Faculty of Medicine, Izmir Katip Celebi University, İzmir, Turkey.Department of Pediatric Neurology, Faculty of Medicine, Izmir Katip Celebi University, İzmir, Turkey.Departments of Radiology, Tepecik Training and Research Hospital, İzmir, Turkey.Departments of Medical Genetics, Tepecik Training and Research Hospital, İzmir, Turkey.Departments of Pediatric Neurology, Tepecik Training and Research Hospital, İzmir, Turkey.Department of Pediatric Neurology, Faculty of Medicine, Izmir Katip Celebi University, İzmir, Turkey. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined as an autosomal recessive inheritance disorder characterized by slowly progressive cerebellar, pyramidal and dorsal column dysfunction. The diagnosis is based on specific magnetic resonance imaging abnormalities (MRI) in the cerebral and cerebellar white matter and selective involvement of white matter tracts in the brain stem and spinal cord. LBSL is caused by mutations in the DARS2 gene which encodes the mitochondrial aspartyl-tRNA synthetase. Herein, we report the first pediatric case from Turkey with a typical MRI course of LBSL associated with a compound heterozygous mutation in DARS2 gene. https://turkjpediatr.org/article/view/844DARS2LBSLMRIleukoencephalopathymitochondrial |
| spellingShingle | Dilek Çavuşoğlu Nihal Olgaç-Dündar Özgür Öztekin Taha Reşid Özdemir Pınar Arıcan Pınar Gençpınar The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey The Turkish Journal of Pediatrics DARS2 LBSL MRI leukoencephalopathy mitochondrial |
| title | The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey |
| title_full | The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey |
| title_fullStr | The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey |
| title_full_unstemmed | The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey |
| title_short | The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey |
| title_sort | first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation lbsl from turkey |
| topic | DARS2 LBSL MRI leukoencephalopathy mitochondrial |
| url | https://turkjpediatr.org/article/view/844 |
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