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Updated: Jul 26, 2025
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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
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Labrune Syndrome: A Rare Leukodystrophy
Jishnu Nair1, Sai Sriram Swamiyappan2, Rav Tej Bathala1
1Neurosurgery, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Cureus
|June 22, 2023
Summary
Labrune syndrome, a rare neurological disorder, involves progressive cerebral degeneration. This case highlights a patient with seizures, basal ganglia calcifications, and white matter changes due to a SNORD118 gene mutation.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Labrune syndrome is a rare, progressive neurological disorder.
- Characterized by cerebral degeneration and often presenting with seizures.
Observation:
- A case report of a 21-year-old male with tonic-clonic seizures.
- Imaging revealed symmetrical basal ganglia and thalamic calcifications, white matter hyperintensities, and cysts.
- No parasitic infection was identified.
Findings:
- The patient exhibited characteristic brain imaging findings of Labrune syndrome.
- Genetic analysis identified an autosomal mutation in the SNORD118 gene.
- Treatment focused on symptom management without surgical intervention.
Implications:
- This case expands the understanding of Labrune syndrome's clinical and radiological presentation.
- Highlights the role of SNORD118 gene mutations in this rare condition.
- Emphasizes the importance of genetic testing for diagnosing rare neurological disorders.
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