18F-FDG PET/CT in Labrune Syndrome

Area of Science:

• Neurology
• Genetics
• Neuroimaging

Background:

• Labrune syndrome is a rare neurological disorder.
• It presents with cognitive, motor, and sphincter dysfunction.
• Brain imaging often shows leukoencephalopathy, cystic lesions, and calcifications.

Observation:

• A 69-year-old woman presented with cognitive impairment, motor dysfunction, and incontinence.
• Brain imaging revealed leukoencephalopathy, cystic lesions, and calcifications.
• EEG showed generalized wave abnormalities, and PET/CT indicated reduced glucose metabolism.

Findings:

• Genetic testing confirmed a mutation in the SNORD118 gene.
• This mutation is associated with the observed clinical and imaging findings characteristic of Labrune syndrome.

Implications:

• This case highlights the importance of genetic testing for SNORD118 mutations in suspected Labrune syndrome.
• Understanding the genetic underpinnings can guide future research and therapeutic strategies for this rare neurological disorder.