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Bilateral strio-pallido-dentate calcinosis (Fahr’s disease): report of seven cases and revision of literature

BACKGROUND: Fahr’s disease is rare a neurodegenerative idiopathic condition characterized by symmetric and bilateral calcifications of basal ganglia, usually associated with progressive neuropsychiatric dysfunctions and movement disorders. The term “Fahr’s syndrome” is used in presence of calcificat...

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Autores principales: Savino, Elisabetta, Soavi, Cecilia, Capatti, Eleonora, Borrelli, Massimo, Vigna, Giovanni B., Passaro, Angelina, Zuliani, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015253/
https://www.ncbi.nlm.nih.gov/pubmed/27608765
http://dx.doi.org/10.1186/s12883-016-0693-1
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author Savino, Elisabetta
Soavi, Cecilia
Capatti, Eleonora
Borrelli, Massimo
Vigna, Giovanni B.
Passaro, Angelina
Zuliani, Giovanni
author_facet Savino, Elisabetta
Soavi, Cecilia
Capatti, Eleonora
Borrelli, Massimo
Vigna, Giovanni B.
Passaro, Angelina
Zuliani, Giovanni
author_sort Savino, Elisabetta
collection PubMed
description BACKGROUND: Fahr’s disease is rare a neurodegenerative idiopathic condition characterized by symmetric and bilateral calcifications of basal ganglia, usually associated with progressive neuropsychiatric dysfunctions and movement disorders. The term “Fahr’s syndrome” is used in presence of calcifications secondary to a specific cause, but the variability of etiology, pathogenesis, and clinical picture underlying this condition have raised the question of the real existence of a syndrome. Several classifications based on the etiology, the location of brain calcifications and the clinical presentation have been proposed. Here we describe seven clinical cases of basal ganglia calcifications, in order to search for pathognomonic features and correlations between clinical picture and imaging findings. CASES PRESENTATION: The patients came to our attention for different reasons (most of them for memory/behavior disturbances); all underwent neuro-psychologic evaluation and neuro-imaging. All patients showed variable degrees of deterioration in cognitive function; anxiety and depression were frequent too, and resistant to treatment in all cases. Less frequent, but severe if present, were psychotic symptoms, with different grade of structure and emotional involvement, and always resistant to treatment. We observed only few cases of extrapyramidal disorders related to the disease itself; anyway, mild extrapyramidal syndrome occurred quite frequently after treatment with antipsychotics. CONCLUSION: Based on these findings we discourage the use of the term “Fahr’s syndrome”, and suggest to refer to Idiopathic or Secondary basal ganglia calcification. Unlike early onset forms (idiopathic or inherited), the clinical presentation of late onset form and Secondary basal ganglia calcification seems to be really heterogeneous. Case–control studies are necessary to determine the actual significance of basal ganglia calcification in the adult population and in the elderly, in cognitive, physical and emotional terms.
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spelling pubmed-50152532016-09-09 Bilateral strio-pallido-dentate calcinosis (Fahr’s disease): report of seven cases and revision of literature Savino, Elisabetta Soavi, Cecilia Capatti, Eleonora Borrelli, Massimo Vigna, Giovanni B. Passaro, Angelina Zuliani, Giovanni BMC Neurol Case Report BACKGROUND: Fahr’s disease is rare a neurodegenerative idiopathic condition characterized by symmetric and bilateral calcifications of basal ganglia, usually associated with progressive neuropsychiatric dysfunctions and movement disorders. The term “Fahr’s syndrome” is used in presence of calcifications secondary to a specific cause, but the variability of etiology, pathogenesis, and clinical picture underlying this condition have raised the question of the real existence of a syndrome. Several classifications based on the etiology, the location of brain calcifications and the clinical presentation have been proposed. Here we describe seven clinical cases of basal ganglia calcifications, in order to search for pathognomonic features and correlations between clinical picture and imaging findings. CASES PRESENTATION: The patients came to our attention for different reasons (most of them for memory/behavior disturbances); all underwent neuro-psychologic evaluation and neuro-imaging. All patients showed variable degrees of deterioration in cognitive function; anxiety and depression were frequent too, and resistant to treatment in all cases. Less frequent, but severe if present, were psychotic symptoms, with different grade of structure and emotional involvement, and always resistant to treatment. We observed only few cases of extrapyramidal disorders related to the disease itself; anyway, mild extrapyramidal syndrome occurred quite frequently after treatment with antipsychotics. CONCLUSION: Based on these findings we discourage the use of the term “Fahr’s syndrome”, and suggest to refer to Idiopathic or Secondary basal ganglia calcification. Unlike early onset forms (idiopathic or inherited), the clinical presentation of late onset form and Secondary basal ganglia calcification seems to be really heterogeneous. Case–control studies are necessary to determine the actual significance of basal ganglia calcification in the adult population and in the elderly, in cognitive, physical and emotional terms. BioMed Central 2016-09-08 /pmc/articles/PMC5015253/ /pubmed/27608765 http://dx.doi.org/10.1186/s12883-016-0693-1 Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Savino, Elisabetta
Soavi, Cecilia
Capatti, Eleonora
Borrelli, Massimo
Vigna, Giovanni B.
Passaro, Angelina
Zuliani, Giovanni
Bilateral strio-pallido-dentate calcinosis (Fahr’s disease): report of seven cases and revision of literature
title Bilateral strio-pallido-dentate calcinosis (Fahr’s disease): report of seven cases and revision of literature
title_full Bilateral strio-pallido-dentate calcinosis (Fahr’s disease): report of seven cases and revision of literature
title_fullStr Bilateral strio-pallido-dentate calcinosis (Fahr’s disease): report of seven cases and revision of literature
title_full_unstemmed Bilateral strio-pallido-dentate calcinosis (Fahr’s disease): report of seven cases and revision of literature
title_short Bilateral strio-pallido-dentate calcinosis (Fahr’s disease): report of seven cases and revision of literature
title_sort bilateral strio-pallido-dentate calcinosis (fahr’s disease): report of seven cases and revision of literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015253/
https://www.ncbi.nlm.nih.gov/pubmed/27608765
http://dx.doi.org/10.1186/s12883-016-0693-1
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