Cerebellar lesions in children with tuberous sclerosis complex

Area of Science:

• Neurology
• Radiology
• Genetics

Background:

• Tuberous sclerosis complex (TSC) is a genetic disorder characterized by benign tumor formation in multiple organs.
• Cerebral tubers are common in TSC, but cerebellar involvement is less frequently reported.
• Understanding the imaging features of cerebellar lesions in TSC is crucial for diagnosis and management.

Purpose of the Study:

• To describe the magnetic resonance (MR) imaging characteristics of cerebellar lesions in a cohort of children with TSC.
• To evaluate the frequency, location, signal intensity, and contrast enhancement patterns of cerebellar tubers.
• To correlate cerebellar findings with genetic mutations and cerebral involvement.

Main Methods:

• Retrospective review of MR examinations from 73 children diagnosed with TSC.
• Selection of 12 patients exhibiting cerebellar lesions for detailed analysis.
• Evaluation of lesion characteristics including number, location, signal intensity (T1, T2, FLAIR), and contrast enhancement after Gadolinium administration.

Main Results:

• Cerebellar tubers were identified in 16.4% (12/73) of the pediatric TSC cohort, totaling 21 lesions.
• Most cerebellar tubers demonstrated hyperintensity on T2-weighted and FLAIR images and hypointensity on T1-weighted images.
• Contrast enhancement was observed in 52.38% of cerebellar tubers, unlike cortical cerebral tubers.
• Atrophy was noted in seven cerebellar tubers, and TSC2 gene mutation was confirmed in eight patients.

Conclusions:

• Cerebellar tubers are an uncommon but distinct finding in tuberous sclerosis complex.
• MR imaging reveals characteristic signal intensities and contrast enhancement patterns for cerebellar tubers.
• The presence of cerebellar tubers may be associated with parenchymal volume loss and is not found in isolation from cerebral tubers.