Leukoencephalopathy With Calcifications and Cysts Associated With SNORD118 Variants

A 67-year-old woman presented with gradually progressive gait impairment. Examination revealed left third nerve palsy, ataxia, and lower limb spasticity. Twenty-four years previously, hydrocephalus and multifocal cerebral cysts necessitated ventriculostomy and cyst biopsy (Figure 1), followed by foramen magnum decompression 2 years later and, after a further 4 years, cerebellar haemorrhage evacuation. Leukoencephalopathy with calcification and cysts, a rare, recently described autosomal ribosomopathy,1 was suspected at representation on the basis of neuroimaging (Figure 2). The diagnosis was confirmed following re-review of histopathology. Genetic screening detected a likely pathogenic variant in SNORD118 (n.*9C>T) and a variant of unknown significance (n.126C>T). Progressive, multifocal symptoms are characteristic.2

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