Abstract
BackgroundLeukoencephalopathy 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 presentationWe 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.ConclusionsThese findings support that the white matter changes seen in LCC arise as a consequence of ischemia rather than demyelination.
Highlights
Leukoencephalopathy with brain calcifications and cysts (LCC; known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118
These findings support that the white matter changes seen in LCC arise as a consequence of ischemia rather than demyelination
Leukoencephalopathy with brain calcifications and cysts (LCC), first described by Labrune et al in 1996 [1], is a rare autosomal recessive genetic disorder caused by biallelic mutations in Small Nucleolar RNA, C/D Box 118 (SNORD118), a non-protein-coding small nucleolar RNA gene on chromosome 17p13.1 [2]
Summary
Leukoencephalopathy with brain calcifications and cysts (LCC), first described by Labrune et al in 1996 [1], is a rare autosomal recessive genetic disorder caused by biallelic mutations in Small Nucleolar RNA, C/D Box 118 (SNORD118), a non-protein-coding small nucleolar RNA gene on chromosome 17p13.1 [2]. We present the pathologic findings from a 36-year-old woman with imaging findings of leukoencephalopathy, cerebral calcifications, and multiple parenchymal cysts. Our case demonstrates that myelin pallor is associated with axonal loss, supporting an ischemic rather than demyelinating mechanism for the white matter changes characteristic of LCC. Case presentation A 36-year-old woman with type 2 diabetes mellitus and morbid obesity presented with progressive balance disturbance over several months. She was born premature to healthy non-consanguineous parents, and had an unremarkable family history. On examination, she was alert, oriented, and conversant. Histopathologic examination revealed white matter with a spectrum of microangiopathic changes (Fig. 3).
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