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Acta Neurologica Belgica
Published in: Acta Neurologica Belgica 2/2018

01-06-2018 | Neuro-Images

An unusual cause of cavitating leukoencephalopathy: ethylmalonic encephalopathy

Authors: Dilek Cavusoglu, Burcu Ozturk Hismi, Nihal Olgac Dundar, Ozgur Oztekin, Altug Koc, Ebru Canda, Pinar Arican, Pinar Gencpinar

Published in: Acta Neurologica Belgica | Issue 2/2018

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Excerpt

Following a mild head trauma 1 week prior, a 6-year-old girl diagnosed with Leigh syndrome was admitted to our Child Neurology Department due to a loss of reaction to external stimuli and swallowing dysfunction. She was able to walk and began to speak at 30 months of age, but then lost the ability to walk at 5 years old, so she had delays and regressions in development. …
Literature
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Bhat MD, Prasad C, Tiwari S, Chandra SR, Christopher R (2016) Diffusion restriction in ethylmalonic encephalopathy—an imaging evidence of the pathophysiology of the disease. Brain Dev 38:768–771CrossRefPubMed
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Pigeon N, Campeau PM, Cyr D, Lemieux B, Clarke JT (2009) Clinical heterogeneity in ethylmalonic encephalopathy. J Child Neurol 24:991–996CrossRefPubMed
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Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E (2016) LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. Brain 139:782–794CrossRefPubMed
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Ferreira M, Torraco A, Rizza T, Fattori F, Meschini MC, Castana C, Go NE, Nargang FE, Duarte M, Piemonte F, Dionisi-Vici C, Videira A, Vilarinho L, Santorelli FM, Carrozzo R, Bertini E (2011) Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1. Neurogenetics 12:9–17CrossRefPubMed
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Martinez Lyons A, Ardissone A, Reyes A, Robinson AJ, Moroni I, Ghezzi D, Fernandez-Vizarra E, Zeviani M (2016) COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. J Med Genet 53:846–849CrossRefPubMedPubMedCentral
Metadata
Title
An unusual cause of cavitating leukoencephalopathy: ethylmalonic encephalopathy
Authors
Dilek Cavusoglu
Burcu Ozturk Hismi
Nihal Olgac Dundar
Ozgur Oztekin
Altug Koc
Ebru Canda
Pinar Arican
Pinar Gencpinar
Publication date
01-06-2018
Publisher
Springer International Publishing
Published in
Acta Neurologica Belgica / Issue 2/2018
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI
https://doi.org/10.1007/s13760-018-0902-3

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