Leukoencephalopathy, calcifications, and cysts: Labrune syndrome

Area of Science:

• Neurology
• Genetics
• Radiology

Background:

• Labrune syndrome is an extremely rare genetic disorder.
• It is characterized by a radiological triad: leukoencephalopathy, cerebral calcifications, and cysts.
• The condition arises from an autosomal mutation in the SNORD118 gene, impacting rRNA synthesis.

Observation:

• The mutation selectively causes cerebral microangiopathy via an unknown mechanism.
• Radiological imaging is crucial for diagnosis.
• No standard treatment exists due to the condition's rarity.

Findings:

• This study presents the longitudinal progression of a Labrune syndrome case.
• It includes detailed radiological diagnosis and imaging findings.
• Management strategies, including surgical intervention, are discussed.

Implications:

• This case report contributes to understanding Labrune syndrome's natural history.
• It highlights the importance of advanced imaging in diagnosing rare neurological disorders.
• Further research may elucidate the underlying mechanisms and inform treatment strategies.