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A Diagnostic Dilemma of White Matter Lesions and Cerebral Oedema without Identifiable Cause—A Neurological Conundrum

Introduction: This paper describes a case of bi-frontal vasogenic oedema associated with bilateral frontal lobe and left parietal lobe white matter lesions where extensive investigations, including brain biopsy, failed to establish a diagnosis. Case Report: A 67-year-old female presented with three...

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Autores principales: Goire, Namraj, Buckland, Michael, Cuganesan, Ramesh, Saleem, Sameer, Lea, Vivienne, Beran, Roy G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467850/
https://www.ncbi.nlm.nih.gov/pubmed/34573258
http://dx.doi.org/10.3390/brainsci11091238
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author Goire, Namraj
Buckland, Michael
Cuganesan, Ramesh
Saleem, Sameer
Lea, Vivienne
Beran, Roy G
author_facet Goire, Namraj
Buckland, Michael
Cuganesan, Ramesh
Saleem, Sameer
Lea, Vivienne
Beran, Roy G
author_sort Goire, Namraj
collection PubMed
description Introduction: This paper describes a case of bi-frontal vasogenic oedema associated with bilateral frontal lobe and left parietal lobe white matter lesions where extensive investigations, including brain biopsy, failed to establish a diagnosis. Case Report: A 67-year-old female presented with three weeks’ history of memory loss, fatigue, insomnia, nausea, and occasional dysphasia. Physical examination was unremarkable, yet cerebral CT and MRI showed bilateral frontal lobe vasogenic oedema. Extensive investigations, including: biochemical; radiological; immunological; microbiological; haematological; histopathological; and cytological, failed to establish a confirmed diagnosis. A multidisciplinary team could not achieve a consensus for this atypical presentation. Brain biopsy was unusual, showing destructive inflammatory and subtly granulomatous disease, but an exhaustive list of auxiliary tests could not confirm a cause, and consensus favoured glial fibrillary acidic protein (GFAP) autoimmune encephalopathy. Discussion: A definitive diagnosis could not be established for this patient despite a gamut of investigations. Although some of the presenting features were consistent with GFAP astrocytopathy, initial staining of the patient’s CSF for neuronal antibodies was negative. Her symptoms and radiological changes of brain imaging improved without any corticosteroid therapy. Conclusions: Through this case report, the aim is to add to the repository of neurological sciences in the hope that future similar presentations could potentially lead to discovery of a new aetiology or contribute towards better understanding of an existing disease process.
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spelling pubmed-84678502021-09-27 A Diagnostic Dilemma of White Matter Lesions and Cerebral Oedema without Identifiable Cause—A Neurological Conundrum Goire, Namraj Buckland, Michael Cuganesan, Ramesh Saleem, Sameer Lea, Vivienne Beran, Roy G Brain Sci Case Report Introduction: This paper describes a case of bi-frontal vasogenic oedema associated with bilateral frontal lobe and left parietal lobe white matter lesions where extensive investigations, including brain biopsy, failed to establish a diagnosis. Case Report: A 67-year-old female presented with three weeks’ history of memory loss, fatigue, insomnia, nausea, and occasional dysphasia. Physical examination was unremarkable, yet cerebral CT and MRI showed bilateral frontal lobe vasogenic oedema. Extensive investigations, including: biochemical; radiological; immunological; microbiological; haematological; histopathological; and cytological, failed to establish a confirmed diagnosis. A multidisciplinary team could not achieve a consensus for this atypical presentation. Brain biopsy was unusual, showing destructive inflammatory and subtly granulomatous disease, but an exhaustive list of auxiliary tests could not confirm a cause, and consensus favoured glial fibrillary acidic protein (GFAP) autoimmune encephalopathy. Discussion: A definitive diagnosis could not be established for this patient despite a gamut of investigations. Although some of the presenting features were consistent with GFAP astrocytopathy, initial staining of the patient’s CSF for neuronal antibodies was negative. Her symptoms and radiological changes of brain imaging improved without any corticosteroid therapy. Conclusions: Through this case report, the aim is to add to the repository of neurological sciences in the hope that future similar presentations could potentially lead to discovery of a new aetiology or contribute towards better understanding of an existing disease process. MDPI 2021-09-18 /pmc/articles/PMC8467850/ /pubmed/34573258 http://dx.doi.org/10.3390/brainsci11091238 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Goire, Namraj
Buckland, Michael
Cuganesan, Ramesh
Saleem, Sameer
Lea, Vivienne
Beran, Roy G
A Diagnostic Dilemma of White Matter Lesions and Cerebral Oedema without Identifiable Cause—A Neurological Conundrum
title A Diagnostic Dilemma of White Matter Lesions and Cerebral Oedema without Identifiable Cause—A Neurological Conundrum
title_full A Diagnostic Dilemma of White Matter Lesions and Cerebral Oedema without Identifiable Cause—A Neurological Conundrum
title_fullStr A Diagnostic Dilemma of White Matter Lesions and Cerebral Oedema without Identifiable Cause—A Neurological Conundrum
title_full_unstemmed A Diagnostic Dilemma of White Matter Lesions and Cerebral Oedema without Identifiable Cause—A Neurological Conundrum
title_short A Diagnostic Dilemma of White Matter Lesions and Cerebral Oedema without Identifiable Cause—A Neurological Conundrum
title_sort diagnostic dilemma of white matter lesions and cerebral oedema without identifiable cause—a neurological conundrum
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467850/
https://www.ncbi.nlm.nih.gov/pubmed/34573258
http://dx.doi.org/10.3390/brainsci11091238
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