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Leukoencephalopathy with calcifications and cysts: A case report with literature review.

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Title: Leukoencephalopathy with calcifications and cysts: A case report with literature review.
Authors: Li, Jingya (AUTHOR), Li, Chun (AUTHOR), Zhang, Qing (AUTHOR), Qiu, Chao (AUTHOR)
Source: Neurological Sciences. Aug2023, Vol. 44 Issue 8, p2715-2729. 15p. 1 Black and White Photograph, 1 Diagram, 2 Charts, 1 Graph.
Subjects: Delayed diagnosis, Calcification, Cysts (Pathology), Central nervous system, Leukoencephalopathies, Epilepsy
Abstract: Leukoencephalopathy with calcifications and cysts (LCC; OMIM #614561) is a rare disease and at present there are less than 100 cases reported worldwide. Mutations in the SNORD118 gene is now known to be the cause of LCC. We present a case who was heterozygous for the n.70G>A and n.6C>T sequence variants of the SNORD118 gene, variants which to date have not been described. Compared with the cases that we reviewed, our patient had the second longest time to diagnosis (age 56) from onset of symptoms 40 years prior. Moreover, his cousin's family has a high prevalence of epilepsy. This paper reviewed all published reports to date that had descriptive cases involving LCC as well as testing for the SNORD118 gene. Since 1996 only 85 patients have been described in 59 case reports. In this review, we summarize their clinical features, especially central nervous system symptoms, treatment, pathology, and gene testing results. [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: Leukoencephalopathy with calcifications and cysts: A case report with literature review.
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  Data: <searchLink fieldCode="AR" term="%22Li%2C+Jingya%22">Li, Jingya</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Li%2C+Chun%22">Li, Chun</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhang%2C+Qing%22">Zhang, Qing</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Qiu%2C+Chao%22">Qiu, Chao</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Aug2023, Vol. 44 Issue 8, p2715-2729. 15p. 1 Black and White Photograph, 1 Diagram, 2 Charts, 1 Graph.
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  Data: <searchLink fieldCode="DE" term="%22Delayed+diagnosis%22">Delayed diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22Calcification%22">Calcification</searchLink><br /><searchLink fieldCode="DE" term="%22Cysts+%28Pathology%29%22">Cysts (Pathology)</searchLink><br /><searchLink fieldCode="DE" term="%22Central+nervous+system%22">Central nervous system</searchLink><br /><searchLink fieldCode="DE" term="%22Leukoencephalopathies%22">Leukoencephalopathies</searchLink><br /><searchLink fieldCode="DE" term="%22Epilepsy%22">Epilepsy</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Leukoencephalopathy with calcifications and cysts (LCC; OMIM #614561) is a rare disease and at present there are less than 100 cases reported worldwide. Mutations in the SNORD118 gene is now known to be the cause of LCC. We present a case who was heterozygous for the n.70G>A and n.6C>T sequence variants of the SNORD118 gene, variants which to date have not been described. Compared with the cases that we reviewed, our patient had the second longest time to diagnosis (age 56) from onset of symptoms 40 years prior. Moreover, his cousin's family has a high prevalence of epilepsy. This paper reviewed all published reports to date that had descriptive cases involving LCC as well as testing for the SNORD118 gene. Since 1996 only 85 patients have been described in 59 case reports. In this review, we summarize their clinical features, especially central nervous system symptoms, treatment, pathology, and gene testing results. [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/s10072-023-06776-y
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      – Code: eng
        Text: English
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    Subjects:
      – SubjectFull: Delayed diagnosis
        Type: general
      – SubjectFull: Calcification
        Type: general
      – SubjectFull: Cysts (Pathology)
        Type: general
      – SubjectFull: Central nervous system
        Type: general
      – SubjectFull: Leukoencephalopathies
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      – SubjectFull: Epilepsy
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            – D: 01
              M: 08
              Text: Aug2023
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              Y: 2023
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