Cargando…
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...
Autores principales: | , , , , , , |
---|---|
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 |
_version_ | 1784873703327137792 |
---|---|
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. |
format | Online Article Text |
id | pubmed-9856726 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT risovittorio neurologicalerdheimchesterdiseasemanifestingwithsubacuteorprogressivecerebellarataxianovelcaseseriesandreviewoftheliterature AT nicolettitommasofilippo neurologicalerdheimchesterdiseasemanifestingwithsubacuteorprogressivecerebellarataxianovelcaseseriesandreviewoftheliterature AT rossisalvatore neurologicalerdheimchesterdiseasemanifestingwithsubacuteorprogressivecerebellarataxianovelcaseseriesandreviewoftheliterature AT vitamariagabriella neurologicalerdheimchesterdiseasemanifestingwithsubacuteorprogressivecerebellarataxianovelcaseseriesandreviewoftheliterature AT alessiaperna neurologicalerdheimchesterdiseasemanifestingwithsubacuteorprogressivecerebellarataxianovelcaseseriesandreviewoftheliterature AT dinataledaniele neurologicalerdheimchesterdiseasemanifestingwithsubacuteorprogressivecerebellarataxianovelcaseseriesandreviewoftheliterature AT silvestrigabriella neurologicalerdheimchesterdiseasemanifestingwithsubacuteorprogressivecerebellarataxianovelcaseseriesandreviewoftheliterature |