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Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature.

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Title: Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature.
Authors: Picchi, Eliseo (AUTHOR), Ferrazzoli, Valentina (AUTHOR), Pizzicannella, Giulia (AUTHOR), Pucci, Noemi (AUTHOR), Pitocchi, Francesca (AUTHOR), Valente, Fabrizio (AUTHOR), Minosse, Silvia (AUTHOR), Izzi, Francesca (AUTHOR), Schirinzi, Tommaso (AUTHOR), Bonomi, Chiara (AUTHOR), Aiello, Chiara (AUTHOR), Floris, Roberto (AUTHOR), Garaci, Francesco (AUTHOR), Di Giuliano, Francesca (AUTHOR)
Source: Neurological Sciences. Nov2021, Vol. 42 Issue 11, p4471-4487. 17p. 2 Color Photographs, 4 Black and White Photographs, 5 Charts.
Subjects: Symptoms, Calcification, Genetic disorders, Leukoencephalopathies, Neurological disorders, Coat proteins (Viruses)
Abstract: Leukoencephalopathy with cerebral calcifications and cysts (LCC) is a neurological disorder characterized by the radiological triad of white matter abnormalities, intracranial calcifications and cystic lesions variable in size resulting from a diffuse cerebral microangiopathy. Typically, progressive focal neurological deficits and seizures are the first clinical manifestation, but the severity of symptoms can vary according to the size and location of the cystic lesions holding compressive effects on the surrounding brain tissue. The most common histopathological finding is diffuse microangiopathy, which might be associated to pathogenic mutations in SNORD118 gene causing Labrune syndrome. Similar neuroradiological appearances have been found in the Coats plus syndrome, a systemic disorder caused by a genetic diffuse microangiopathy that affects not only the brain but also the retina and multiple organs, with a more complex clinical picture that address the diagnosis; biallelic mutations in CTC1 gene, encoding the conserved telomere maintenance component 1 (CTC1), are responsible of this systemic disorder. The aim of this contribution is to review the existing literature focusing on the neuroimaging characteristics by reporting cases in which radiological findings were highly suggestive for LCC. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature.
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Nov2021, Vol. 42 Issue 11, p4471-4487. 17p. 2 Color Photographs, 4 Black and White Photographs, 5 Charts.
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  Data: <searchLink fieldCode="DE" term="%22Symptoms%22">Symptoms</searchLink><br /><searchLink fieldCode="DE" term="%22Calcification%22">Calcification</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Leukoencephalopathies%22">Leukoencephalopathies</searchLink><br /><searchLink fieldCode="DE" term="%22Neurological+disorders%22">Neurological disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Coat+proteins+%28Viruses%29%22">Coat proteins (Viruses)</searchLink>
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  Data: Leukoencephalopathy with cerebral calcifications and cysts (LCC) is a neurological disorder characterized by the radiological triad of white matter abnormalities, intracranial calcifications and cystic lesions variable in size resulting from a diffuse cerebral microangiopathy. Typically, progressive focal neurological deficits and seizures are the first clinical manifestation, but the severity of symptoms can vary according to the size and location of the cystic lesions holding compressive effects on the surrounding brain tissue. The most common histopathological finding is diffuse microangiopathy, which might be associated to pathogenic mutations in SNORD118 gene causing Labrune syndrome. Similar neuroradiological appearances have been found in the Coats plus syndrome, a systemic disorder caused by a genetic diffuse microangiopathy that affects not only the brain but also the retina and multiple organs, with a more complex clinical picture that address the diagnosis; biallelic mutations in CTC1 gene, encoding the conserved telomere maintenance component 1 (CTC1), are responsible of this systemic disorder. The aim of this contribution is to review the existing literature focusing on the neuroimaging characteristics by reporting cases in which radiological findings were highly suggestive for LCC. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1007/s10072-021-05560-0
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        Type: general
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      – SubjectFull: Genetic disorders
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      – SubjectFull: Leukoencephalopathies
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