Leukoencephalopathy, brain calcifications, and cysts

Definition:

Leukoencephalopathy, brain calcifications, and cysts (LCC) is a rare disorder that is radiologically characterized by edematous leukoencephalopathy, cerebral calcifications, and formation of parenchymal cysts. It has been shown that mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause LCC.

References:

[1]. Emma M Jenkinson, et al. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet. 2016 Oct;48(10):1185-92. [Content Brief]

[2]. Yubao Ma, et al. Leukoencephalopathy with calcifications and cysts: A case report. Medicine (Baltimore). 2017 Jul;96(29):e7597. [Content Brief]

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