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Neurological Erdheim–Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature

Neurological involvement is relatively common in Erdheim–Chester disease (ECD), a rare clonal disorder of histiocytic myeloid precursors characterized by multisystem involvement. In ECD patients, neurological symptoms can occur either at onset or during the disease course and may lead to various deg...

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Autores principales: Riso, Vittorio, Nicoletti, Tommaso Filippo, Rossi, Salvatore, Vita, Maria Gabriella, Alessia, Perna, Di Natale, Daniele, Silvestri, Gabriella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9856726/
https://www.ncbi.nlm.nih.gov/pubmed/36672008
http://dx.doi.org/10.3390/brainsci13010026
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author Riso, Vittorio
Nicoletti, Tommaso Filippo
Rossi, Salvatore
Vita, Maria Gabriella
Alessia, Perna
Di Natale, Daniele
Silvestri, Gabriella
author_facet Riso, Vittorio
Nicoletti, Tommaso Filippo
Rossi, Salvatore
Vita, Maria Gabriella
Alessia, Perna
Di Natale, Daniele
Silvestri, Gabriella
author_sort Riso, Vittorio
collection PubMed
description Neurological involvement is relatively common in Erdheim–Chester disease (ECD), a rare clonal disorder of histiocytic myeloid precursors characterized by multisystem involvement. In ECD patients, neurological symptoms can occur either at onset or during the disease course and may lead to various degrees of neurological disability or affect patients’ life expectancy. The clinical neurological presentation of ECD often consists of cerebellar symptoms, showing either a subacute or progressive course. In this latter case, patients manifest with a slowly progressive cerebellar ataxia, variably associated with other non-specific neurological signs, infratentorial leukoencephalopathy, and cerebellar atrophy, possibly mimicking either adult-onset degenerative or immune-mediated ataxia. In such cases, diagnosis of ECD may be particularly challenging, yet some peculiar features are helpful to address it. Here, we retrospectively describe four novel ECD patients, all manifesting cerebellar symptoms at onset. In two cases, slow disease progression and associated brain MRI features simulated a degenerative cerebellar ataxia. Three patients received a definite diagnosis of histiocytosis, whereas one case lacked histology confirmation, although clinical diagnostic features were strongly suggestive. Our findings regarding existing literature data focused on neurological ECD will be also discussed to highlight those diagnostic clues helpful to address diagnosis.
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spelling pubmed-98567262023-01-21 Neurological Erdheim–Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature Riso, Vittorio Nicoletti, Tommaso Filippo Rossi, Salvatore Vita, Maria Gabriella Alessia, Perna Di Natale, Daniele Silvestri, Gabriella Brain Sci Article Neurological involvement is relatively common in Erdheim–Chester disease (ECD), a rare clonal disorder of histiocytic myeloid precursors characterized by multisystem involvement. In ECD patients, neurological symptoms can occur either at onset or during the disease course and may lead to various degrees of neurological disability or affect patients’ life expectancy. The clinical neurological presentation of ECD often consists of cerebellar symptoms, showing either a subacute or progressive course. In this latter case, patients manifest with a slowly progressive cerebellar ataxia, variably associated with other non-specific neurological signs, infratentorial leukoencephalopathy, and cerebellar atrophy, possibly mimicking either adult-onset degenerative or immune-mediated ataxia. In such cases, diagnosis of ECD may be particularly challenging, yet some peculiar features are helpful to address it. Here, we retrospectively describe four novel ECD patients, all manifesting cerebellar symptoms at onset. In two cases, slow disease progression and associated brain MRI features simulated a degenerative cerebellar ataxia. Three patients received a definite diagnosis of histiocytosis, whereas one case lacked histology confirmation, although clinical diagnostic features were strongly suggestive. Our findings regarding existing literature data focused on neurological ECD will be also discussed to highlight those diagnostic clues helpful to address diagnosis. MDPI 2022-12-22 /pmc/articles/PMC9856726/ /pubmed/36672008 http://dx.doi.org/10.3390/brainsci13010026 Text en © 2022 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 Article
Riso, Vittorio
Nicoletti, Tommaso Filippo
Rossi, Salvatore
Vita, Maria Gabriella
Alessia, Perna
Di Natale, Daniele
Silvestri, Gabriella
Neurological Erdheim–Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature
title Neurological Erdheim–Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature
title_full Neurological Erdheim–Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature
title_fullStr Neurological Erdheim–Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature
title_full_unstemmed Neurological Erdheim–Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature
title_short Neurological Erdheim–Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature
title_sort neurological erdheim–chester disease manifesting with subacute or progressive cerebellar ataxia: novel case series and review of the literature
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9856726/
https://www.ncbi.nlm.nih.gov/pubmed/36672008
http://dx.doi.org/10.3390/brainsci13010026
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