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Related Experiment Video

Updated: Jan 10, 2026

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Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.

Julia Grafstein1, Yuka Aoyama1, Rena Godfrey1

  • 1Undiagnosed Diseases Program, National Institutes of Health, 10 Center Dr, Bethesda, MD 20892, United States.

Rare (Amsterdam, Netherlands)
|November 28, 2025
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Summary

Leukoencephalopathy with brain calcifications and cysts (LCC) is a rare microangiopathy linked to SNORD118 gene variants. This study highlights diagnostic challenges and expands the understanding of LCC

Keywords:
CalcificationsCystsLCCLabrune SyndromeLeukoencephalopathySNORD118

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Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Leukoencephalopathy with brain calcifications and cysts (LCC), or Labrune Syndrome, is a rare cerebral microangiopathy.
  • It is caused by biallelic variants in the SNORD118 gene, essential for ribosome biogenesis.

Purpose of the Study:

  • To present cases of LCC with complex diagnostic journeys.
  • To expand the known clinical and imaging spectrum of SNORD118-related LCC.
  • To highlight diagnostic challenges and the importance of non-coding RNA analysis.

Main Methods:

  • Clinical case presentation of two individuals with LCC.
  • Detailed neuroimaging analysis (leukoencephalopathy, calcifications, cysts).
  • Genetic analysis confirming compound heterozygous SNORD118 variants, including a non-coding change.

Main Results:

  • Cases presented with protracted diagnostic trajectories and initial misdiagnoses.
  • Confirmed compound heterozygous SNORD118 variants, including a rare non-coding variant.
  • Neuroimaging showed extensive abnormalities, contrasting with variable clinical severity.

Conclusions:

  • SNORD118-related LCC exhibits significant phenotypic variability and diagnostic challenges.
  • Incomplete sequencing coverage of non-coding regions can hinder variant detection.
  • Increased awareness and improved interrogation of non-coding RNAs are crucial for accurate LCC diagnosis.