Article
Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene.
European journal of neurology - 1 Nov 2020
Bonomo G, Monfrini E, Borellini L, Bonomo R, Arienti F, Saetti M C, Di Fonzo A, Locatelli M
Abstract excerpt
BACKGROUND AND PURPOSE: Although Labrune syndrome is a well-known disorder characterized by a typical neuroradiological triad, namely leukoencephalopathy, intracranial calcifications and cysts, there are no reports of systemic involvement in this disorder. This paper attempts to describe a peculiar clinical manifestation related to a novel mutation in the SNORD118 gene. METHODS: Clinical examination, brain and...
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