Leukoencephalopathy with calcifications and cysts: a case study with long‐term follow‐up

Lomidze, Giorgi; Chutkerashvili, Gocha; Tskhvaradze, Svetlana; Gzirishvili, Nino; Kasradze, Sofia

doi:10.1684/epd.2022.1478

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2024

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(2 citation statements)

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“…Since Labrune and colleagues first described the triad of leukoencephalopathy with calcifications and cysts (LCC) in 1996, over 100 cases have been reported [1]. There is no defined protocol for diagnosis and treatment because of the uncommon occurrence [2]. T2 hyperintensity in the diffuse bilateral cerebral white matter is among the most observed neuroimaging features [3].…”

Section: Discussionmentioning

confidence: 99%

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Unraveling Labrune Syndrome: A Case Report on the Neurological Phenotype in SNORD118-Negative Patients

Rohatgi,

Nimal,

Nirhale

et al. 2024

Cureus

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Labrune syndrome is a rare neurogenetic disorder with varied presentations. Here, we report the case of a 53-year-old male who presented with seizures, gait imbalance, and upper limb tremors for two years. Imaging studies revealed extensive leukodystrophy, multiple cerebral calcifications, and cystic lesions characteristic of Labrune syndrome. However, whole exome sequencing did not detect the SNORD118 mutation, typically associated with Labrune syndrome. Although the SNORD118 mutation is commonly found in Labrune syndrome, a few cases of the syndrome without this mutation have also been reported. This suggests the possibility that other yet undiscovered mutations may cause the same phenotype.

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Section: Discussionmentioning

confidence: 99%

“…The primary pathology is cerebral microangiopathy, which coexists with micro-hemorrhage, cerebral calcification, and gliosis. In 2016, Jenkinson et al identified the SNORD118 mutation that causes Labrune syndrome [ 2 ]. The SNORD118 gene may be essential for the maturation of ribosomal RNAs.…”

Section: Introductionmentioning

confidence: 99%