Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L)
Progressive cavitating leukoencephalopathy is a childhood neurodegenerative syndrome characterized by brain MR imaging findings of patchy leukoencephalopathy with cavities and vascular permeability, initially affecting the corpus callosum and centrum semiovale, and eventually coalescing into large c...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-07-01
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| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043320301485 |
| _version_ | 1811331504116072448 |
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| author | Austin Shinagawa, BS Stephen Hugdal, MD Jay Babu Rajesh Rangaswamy, MD |
| author_facet | Austin Shinagawa, BS Stephen Hugdal, MD Jay Babu Rajesh Rangaswamy, MD |
| author_sort | Austin Shinagawa, BS |
| collection | DOAJ |
| description | Progressive cavitating leukoencephalopathy is a childhood neurodegenerative syndrome characterized by brain MR imaging findings of patchy leukoencephalopathy with cavities and vascular permeability, initially affecting the corpus callosum and centrum semiovale, and eventually coalescing into large cystic regions of white matter. We report a case of progressive cavitating leukoencephalopathy in a 2-year-old female patient presenting as intermittent motor deficits which partially resolved over several months. Whole exome sequencing revealed a homozygous c.264C>G (p.F88L) POLG variant of uncertain pathogenicity which was potentially related to this presentation. Further testing and information are needed to prove the pathogenicity of this variant, but considering other studies which report similar genotypes in association with differing phenotypes, the current case report supports a possible pathogenicity. This case could therefore represent the first reported instance of progressive cavitating leukoencephalopathy in the presence of a POLG mutation. |
| first_indexed | 2024-04-13T16:21:32Z |
| format | Article |
| id | doaj.art-14f20e88162e40108bc77d3f8e5fffa3 |
| institution | Directory Open Access Journal |
| issn | 1930-0433 |
| language | English |
| last_indexed | 2024-04-13T16:21:32Z |
| publishDate | 2020-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj.art-14f20e88162e40108bc77d3f8e5fffa32022-12-22T02:39:54ZengElsevierRadiology Case Reports1930-04332020-07-01157908913Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L)Austin Shinagawa, BS0Stephen Hugdal, MD1Jay Babu2Rajesh Rangaswamy, MD3University of Nevada, Reno School of Medicine, 1664 N. Virginia Street, Reno, NV 89557, USA; Corresponding author.University of Nevada, Reno School of Medicine, 1664 N. Virginia Street, Reno, NV 89557, USAUniversity of Nevada, Reno Department of Biology, Reno, NV, USARenown Regional Medical Center, Department of Radiology, Reno, NV, USAProgressive cavitating leukoencephalopathy is a childhood neurodegenerative syndrome characterized by brain MR imaging findings of patchy leukoencephalopathy with cavities and vascular permeability, initially affecting the corpus callosum and centrum semiovale, and eventually coalescing into large cystic regions of white matter. We report a case of progressive cavitating leukoencephalopathy in a 2-year-old female patient presenting as intermittent motor deficits which partially resolved over several months. Whole exome sequencing revealed a homozygous c.264C>G (p.F88L) POLG variant of uncertain pathogenicity which was potentially related to this presentation. Further testing and information are needed to prove the pathogenicity of this variant, but considering other studies which report similar genotypes in association with differing phenotypes, the current case report supports a possible pathogenicity. This case could therefore represent the first reported instance of progressive cavitating leukoencephalopathy in the presence of a POLG mutation.http://www.sciencedirect.com/science/article/pii/S1930043320301485Progressive cavitating leukoencephalopathyMitochondrial depletion syndromeNeurodegenerativePOLG |
| spellingShingle | Austin Shinagawa, BS Stephen Hugdal, MD Jay Babu Rajesh Rangaswamy, MD Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L) Radiology Case Reports Progressive cavitating leukoencephalopathy Mitochondrial depletion syndrome Neurodegenerative POLG |
| title | Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L) |
| title_full | Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L) |
| title_fullStr | Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L) |
| title_full_unstemmed | Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L) |
| title_short | Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L) |
| title_sort | progressive cavitating leukoencephalopathy associated with a homozygous polg mutation of 264c g p f88l |
| topic | Progressive cavitating leukoencephalopathy Mitochondrial depletion syndrome Neurodegenerative POLG |
| url | http://www.sciencedirect.com/science/article/pii/S1930043320301485 |
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