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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

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Published on: October 21, 2014

Labrune Syndrome: A Rare Leukodystrophy.

Jishnu Nair¹, Sai Sriram Swamiyappan², Rav Tej Bathala¹

¹Neurosurgery, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.

|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.

Keywords:

cerebral calcifications cysts labrune syndrome leukodystrophy snord118 gene mutation

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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.