Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review

Abstract

Ribosomopathies are rare, recently defined entities. One of these, Labrune syndrome, is recognisable radiologically by its distinctive triad of leukoencephalopathy, intracranial calcifications and cysts (LCC). These cysts may have neurosurgical implications at different ages because of their progressive expansion and local mass effect. The aetiology of LCC is related to a widespread cerebral microangiopathy and is due to a genetic mutation in SNORD118, responsible for stabilisation of the large ribosomal subunit during assembly.

Leukoencephalopathy, calcifications, and cysts: Labrune syndrome

“…Rosenthal fibers, proteinaceous aggregates of glial fibrillary acidic protein and ubiquitin found in fibrous astrocytes under inflammatory conditions, are also observed, as are blood vessel calcifications and gliosis [3] . Other case reports demonstrate decreased N-acetylaspartate (NAA) and choline (Cho) peaks on magnetic resonance spectrometry (MRS), indicating the leukoencephalopathy observed in LCC is due to increased water content in myelin, not demyelination [ 5 , 11 ]. Although there is much left to be understood about the pathogenesis of LCC, the disease can be well defined genetically, radiologically, and histopathologically.…”