Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease
Abstract Background Leukoencephalopathy with brain calcifications and cysts (LCC; also known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118. The mechanisms by which loss-of-function mutations in SNORD118 lead to the phenotype of leukoencephalopathy,...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-01-01
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| Series: | BMC Neurology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12883-021-02531-y |
| _version_ | 1819229106600935424 |
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| author | Michelle Paff Nardin Samuel Noor Alsafwani Darcia Paul Phedias Diamandis Seth A. Climans Walter Kucharczyk Mandy Yi Rong Ding Andrew F. Gao Andres M. Lozano |
| author_facet | Michelle Paff Nardin Samuel Noor Alsafwani Darcia Paul Phedias Diamandis Seth A. Climans Walter Kucharczyk Mandy Yi Rong Ding Andrew F. Gao Andres M. Lozano |
| author_sort | Michelle Paff |
| collection | DOAJ |
| description | Abstract Background Leukoencephalopathy with brain calcifications and cysts (LCC; also known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118. The mechanisms by which loss-of-function mutations in SNORD118 lead to the phenotype of leukoencephalopathy, calcifications and intracranial cysts is unknown. Case presentation We present the histopathology of a 36-year-old woman with ataxia and neuroimaging findings of diffuse white matter abnormalities, cerebral calcifications, and parenchymal cysts, in whom the diagnosis of LCC was confirmed with genetic testing. Biopsy of frontal white matter revealed microangiopathy with small vessel occlusion and sclerosis associated with axonal loss within the white matter. Conclusions These findings support that the white matter changes seen in LCC arise as a consequence of ischemia rather than demyelination. |
| first_indexed | 2024-12-23T11:07:54Z |
| format | Article |
| id | doaj.art-5ca03fa18bd84c048808dd4b3d6b62b0 |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-12-23T11:07:54Z |
| publishDate | 2022-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-5ca03fa18bd84c048808dd4b3d6b62b02022-12-21T17:49:26ZengBMCBMC Neurology1471-23772022-01-012211610.1186/s12883-021-02531-yLeukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological diseaseMichelle Paff0Nardin Samuel1Noor Alsafwani2Darcia Paul3Phedias Diamandis4Seth A. Climans5Walter Kucharczyk6Mandy Yi Rong Ding7Andrew F. Gao8Andres M. Lozano9Department of Neurological Surgery, University of California IrvineDivision of Neurosurgery, Department of Surgery, University Health NetworkLaboratory Medicine Program, University Health NetworkDivision of Neurosurgery, Department of Surgery, University Health NetworkLaboratory Medicine Program, University Health NetworkDivision of Neurology, Department of Medicine, University Health NetworkJoint Department of Medical Imaging, University Health Network, University of TorontoDivision of Neurology, Department of Medicine, University Health NetworkLaboratory Medicine Program, University Health NetworkDivision of Neurosurgery, Department of Surgery, University Health NetworkAbstract Background Leukoencephalopathy with brain calcifications and cysts (LCC; also known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118. The mechanisms by which loss-of-function mutations in SNORD118 lead to the phenotype of leukoencephalopathy, calcifications and intracranial cysts is unknown. Case presentation We present the histopathology of a 36-year-old woman with ataxia and neuroimaging findings of diffuse white matter abnormalities, cerebral calcifications, and parenchymal cysts, in whom the diagnosis of LCC was confirmed with genetic testing. Biopsy of frontal white matter revealed microangiopathy with small vessel occlusion and sclerosis associated with axonal loss within the white matter. Conclusions These findings support that the white matter changes seen in LCC arise as a consequence of ischemia rather than demyelination.https://doi.org/10.1186/s12883-021-02531-yLabrune syndromeLeucoencephalopathyIntracranial cystsIntracranial calcificationsCase report |
| spellingShingle | Michelle Paff Nardin Samuel Noor Alsafwani Darcia Paul Phedias Diamandis Seth A. Climans Walter Kucharczyk Mandy Yi Rong Ding Andrew F. Gao Andres M. Lozano Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease BMC Neurology Labrune syndrome Leucoencephalopathy Intracranial cysts Intracranial calcifications Case report |
| title | Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease |
| title_full | Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease |
| title_fullStr | Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease |
| title_full_unstemmed | Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease |
| title_short | Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease |
| title_sort | leukoencephalopathy with brain calcifications and cysts labrune syndrome case report diagnosis and management of a rare neurological disease |
| topic | Labrune syndrome Leucoencephalopathy Intracranial cysts Intracranial calcifications Case report |
| url | https://doi.org/10.1186/s12883-021-02531-y |
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