Although Labrune syndrome is a well‐known disorder characterized by a typical neuroradiological triad, namely leukoencephalopathy, intracranial calcifications, and cysts, there are no systemic involvement reports in this disorder. This paper attempts to describe a peculiar clinical manifestation related to a novel mutation in the SNORD118 gene.
Clinical examination, brain and total‐body imaging, and neurophysiological and ophthalmological investigations were performed on the women. Amplification of the SNORD118 gene and Sanger sequencing were integrated to investigate potential causative mutations.
A case of a 69‐year‐old woman is presenting here. She presented with a long history of vertigo and gait imbalance episodes and was referred to our hospital for progressive cognitive and motor deterioration. Computed tomography (CT-scan) and magnetic resonance imaging (MRI) disclosed diffuse bilateral leukoencephalopathy in periventricular and deep white matter, widespread calcifications, and numerous cysts in the brain, liver, pancreas, and kidneys. The genetic analysis revealed two biallelic variants in the SNORD118 gene, one of which is novel.
This study concluded that the first report of adult‐onset Labrune syndrome with an unusual systemic involvement presents a novel mutation in the SNORD118 gene.
Reference: https://onlinelibrary.wiley.com/doi/10.1111/ene.14313
