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

Suzanne Murphy; Gabriella Grima; Kshitij Mankad; Kristian Aquilina

doi:10.1007/s00381-021-05208-6

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

Childs Nerv Syst. 2022 Mar;38(3):643-648. doi: 10.1007/s00381-021-05208-6. Epub 2021 May 21.

Authors

Suzanne Murphy¹, Gabriella Grima², Kshitij Mankad³, Kristian Aquilina²

Affiliations

¹ School of Medicine, Royal College of Surgeons, Dublin, Ireland. Suzannemmurphy@rcsi.com.
² Department of Neurosurgery, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
³ Department of Neuroradiology, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

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.

Keywords: Hydrocephalus; LCC; Labrune syndrome; Ribosomopathy; SNORD118.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Calcinosis* / diagnostic imaging
Calcinosis* / genetics
Calcinosis* / surgery
Central Nervous System Cysts*
Child
Cysts*
Humans
Leukoencephalopathies*
RNA, Small Nucleolar / genetics

Substances

RNA, Small Nucleolar