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Case Reports
. 2022 Nov 28;18(2):584-590.
doi: 10.1016/j.radcr.2022.11.026. eCollection 2023 Feb.

Leukoencephalopathy, calcifications, and cysts: Labrune syndrome

Andrew Waack  1 , Jordan Norris  1 , Kathryn Becker  1 , Alastair Hoyt  1 , Jason Schroeder  1
Affiliations
Case Reports

Leukoencephalopathy, calcifications, and cysts: Labrune syndrome

Andrew Waack et al. Radiol Case Rep. .

Abstract

Labrune syndrome is an extremely rare disorder characterized by a radiological triad of leukoencephalopathy, cerebral calcifications, and cysts. The condition is the result of an autosomal mutation in the SNORD118 gene, a non-protein encoding gene that mediates rRNA synthesis. The mutation results selectively in cerebral microangiopathy through an unknown mechanism. Radiological imaging is central to diagnosing the condition, but, because the condition is so rare, there is no standard treatment paradigm. We describe the longitudinal progression of a case of Labrune syndrome, including the radiological diagnosis and imaging and surgical management.

Keywords: Cerebral calcifications; Cerebral cysts; Leukoencephalopathy; Microangiopathy; Ribosomopathy; White matter.

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Figures

Fig 1
Fig. 1
Initial imaging at age 14, with CT imaging demonstrating extensive calcifications in a subcortical distribution (A), and MR imaging demonstrating extensive white matter disease (B).
Fig 2
Fig. 2
Follow-up imaging 2.5 years after initial imaging. MR imaging demonstrates several bilateral cysts in the subcortical white matter accompanied with white matter disease (A). CT imaging demonstrates increased calcification compared to prior CT (B).
Fig 3
Fig. 3
Pre-operative imaging prior to the first surgery (7.5 years after initial imaging). MR imaging demonstrates significant cyst progression, including the right temporal lobe (A) and throughout the rest of the cerebrum (B). White matter disease and calcifications are also visualized.
Fig 4
Fig. 4
Post-operative CT image the day of first surgery complicated by a left-sided epidural hematoma. Post-operative pneumocephalus is also seen.
Fig 5
Fig. 5
Post-evacuation CT image the day following the initial surgery and epidural hematoma evacuation.
Fig 6
Fig. 6
Pre-operative MR imaging for the second surgery, approximately 15 months after the first surgery. Significant cyst growth and progressive leukodystrophy are demonstrated. Notably, marked growth in the previously fenestrated right temporal lobe cyst is demonstrated (B).
Fig 7
Fig. 7
Post-operative MR image demonstrating significant reduction in the size of the right temporal lobe cyst with consequent relief of mass effect.
See this image and copyright information in PMC

References

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