Leigh syndrome can manifest with intracranial calcifications and bleedings
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| Published in: | Radiology case reports Vol. 18; no. 1; pp. 143 - 144 |
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| Format: | Journal Article |
| Language: | English |
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01-01-2023
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| Author | Finsterer, Josef Newstead, Shaundra M. |
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| Author_xml | – sequence: 1 givenname: Josef orcidid: 0000-0003-2839-7305 surname: Finsterer fullname: Finsterer, Josef email: fifigs1@yahoo.de organization: Neurology & Neurophysiology Center, Postfach 20, 1180, Vienna, Austria – sequence: 2 givenname: Shaundra M. orcidid: 0000-0001-6430-1441 surname: Newstead fullname: Newstead, Shaundra M. organization: HeatSync Biochemistry Laboratory, 108 W Main St., Mesa, AZ 85201, USA |
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| Cites_doi | 10.1016/j.pediatrneurol.2008.07.013 10.1016/j.radcr.2022.06.060 10.1111/j.1469-8749.1993.tb11728.x 10.1136/jnnp.50.2.224 10.1177/0883073816666221 10.1007/s40291-017-0279-7 10.1016/j.mito.2018.06.005 10.5114/fn.2016.64819 |
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| References | Finsterer (bib0005) 2008; 39 Alemao, Gowda, Jain, Singh, Piplani, Shetty (bib0001) 2022; 17 Angural, Sharma, Pandoh, Sharma, Spolia, Rai (bib0002) 2019; 46 Piekutowska-Abramczuk, Mierzewska, Bekiesińska-Figatowska, Ciara, Trubicka, Pronicki (bib0003) 2016; 54 Garone, Gurgel-Giannetti, Sanna-Cherchi, Krishna, Naini, Quinzii (bib0007) 2017; 32 Krägeloh-Mann, Grodd, Schöning, Marquard, Nägele, Ruitenbeek (bib0006) 1993; 35 Delgado, Gállego, Tuñón, Zarranz, Villanueva (bib0004) 1987; 50 Poulton, Finsterer, Yu-Wai-Man (bib0008) 2017; 21 Finsterer (10.1016/j.radcr.2022.10.016_bib0005) 2008; 39 Garone (10.1016/j.radcr.2022.10.016_bib0007) 2017; 32 Alemao (10.1016/j.radcr.2022.10.016_bib0001) 2022; 17 Delgado (10.1016/j.radcr.2022.10.016_bib0004) 1987; 50 Piekutowska-Abramczuk (10.1016/j.radcr.2022.10.016_bib0003) 2016; 54 Angural (10.1016/j.radcr.2022.10.016_bib0002) 2019; 46 Krägeloh-Mann (10.1016/j.radcr.2022.10.016_bib0006) 1993; 35 Poulton (10.1016/j.radcr.2022.10.016_bib0008) 2017; 21 |
| References_xml | – volume: 32 start-page: 246 year: 2017 end-page: 250 ident: bib0007 article-title: A novel SUCLA2 mutation presenting as a complex childhood movement disorder publication-title: J Child Neurol contributor: fullname: Quinzii – volume: 21 start-page: 419 year: 2017 end-page: 429 ident: bib0008 article-title: Genetic counselling for maternally inherited mitochondrial disorders publication-title: Mol Diagn Ther contributor: fullname: Yu-Wai-Man – volume: 46 start-page: 209 year: 2019 end-page: 213 ident: bib0002 article-title: A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications publication-title: Mitochondrion contributor: fullname: Rai – volume: 35 start-page: 769 year: 1993 end-page: 776 ident: bib0006 article-title: Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency publication-title: Dev Med Child Neurol contributor: fullname: Ruitenbeek – volume: 54 start-page: 405 year: 2016 end-page: 409 ident: bib0003 article-title: Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome publication-title: Folia Neuropathol contributor: fullname: Pronicki – volume: 17 start-page: 3321 year: 2022 end-page: 3325 ident: bib0001 article-title: Leigh's disease, a fatal finding in the common world: a case report publication-title: Radiol Case Rep contributor: fullname: Shetty – volume: 39 start-page: 223 year: 2008 end-page: 235 ident: bib0005 article-title: Leigh and Leigh-like syndrome in children and adults publication-title: Pediatr Neurol contributor: fullname: Finsterer – volume: 50 start-page: 224 year: 1987 end-page: 227 ident: bib0004 article-title: Necrotising haemorrhagic encephalomyelopathy in an adult: Leigh's disease publication-title: J Neurol Neurosurg Psychiatry contributor: fullname: Villanueva – volume: 39 start-page: 223 year: 2008 ident: 10.1016/j.radcr.2022.10.016_bib0005 article-title: Leigh and Leigh-like syndrome in children and adults publication-title: Pediatr Neurol doi: 10.1016/j.pediatrneurol.2008.07.013 contributor: fullname: Finsterer – volume: 17 start-page: 3321 year: 2022 ident: 10.1016/j.radcr.2022.10.016_bib0001 article-title: Leigh's disease, a fatal finding in the common world: a case report publication-title: Radiol Case Rep doi: 10.1016/j.radcr.2022.06.060 contributor: fullname: Alemao – volume: 35 start-page: 769 year: 1993 ident: 10.1016/j.radcr.2022.10.016_bib0006 article-title: Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency publication-title: Dev Med Child Neurol doi: 10.1111/j.1469-8749.1993.tb11728.x contributor: fullname: Krägeloh-Mann – volume: 50 start-page: 224 year: 1987 ident: 10.1016/j.radcr.2022.10.016_bib0004 article-title: Necrotising haemorrhagic encephalomyelopathy in an adult: Leigh's disease publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp.50.2.224 contributor: fullname: Delgado – volume: 32 start-page: 246 year: 2017 ident: 10.1016/j.radcr.2022.10.016_bib0007 article-title: A novel SUCLA2 mutation presenting as a complex childhood movement disorder publication-title: J Child Neurol doi: 10.1177/0883073816666221 contributor: fullname: Garone – volume: 21 start-page: 419 year: 2017 ident: 10.1016/j.radcr.2022.10.016_bib0008 article-title: Genetic counselling for maternally inherited mitochondrial disorders publication-title: Mol Diagn Ther doi: 10.1007/s40291-017-0279-7 contributor: fullname: Poulton – volume: 46 start-page: 209 year: 2019 ident: 10.1016/j.radcr.2022.10.016_bib0002 article-title: A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications publication-title: Mitochondrion doi: 10.1016/j.mito.2018.06.005 contributor: fullname: Angural – volume: 54 start-page: 405 year: 2016 ident: 10.1016/j.radcr.2022.10.016_bib0003 article-title: Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome publication-title: Folia Neuropathol doi: 10.5114/fn.2016.64819 contributor: fullname: Piekutowska-Abramczuk |
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| Title | Leigh syndrome can manifest with intracranial calcifications and bleedings |
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