Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Child Neurology"
DOI: 10.1177/0883073820958330
Abstract: Leukoencephalopathy with calcifications and cysts (LCC) is a neurological syndrome recently associated with pathogenic variants in SNORD118. We report autopsy neuropathological findings from an individual with genetically confirmed LCC. Histologic studies included staining of formalin-fixed… read more here.
Keywords: cerebral microangiopathy; cerebral calcifications; microangiopathy leukoencephalopathy; calcifications cysts ... See more keywords
Case Report: Clinical Features of Childhood Leukoencephalopathy With Cerebral Calcifications and Cysts Due to SNORD118 Variants
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.585606
Abstract: Background: Leukoencephalopathy with cerebral calcifications and cysts (LCC) is a rare autosomal recessive cerebral microangiopathy. Recently, biallelic variants in a non-protein-coding gene SNORD118 have been discovered to cause LCC. Case Presentation: We here report a… read more here.
Keywords: cerebral calcifications; case; calcifications cysts; leukoencephalopathy cerebral ... See more keywords