Atypical findings on computed tomography in tuberous sclerosis. Case reports

Area of Science:

• Neurology
• Radiology
• Genetics

Background:

• Tuberous sclerosis is a genetic disorder that affects multiple organs.
• Neurological complications, including seizures, are common in tuberous sclerosis.
• Brain imaging plays a vital role in diagnosing tuberous sclerosis.

Purpose of the Study:

• To describe the computed tomography (CT) findings in infants and children diagnosed with tuberous sclerosis.
• To highlight imaging features that may suggest tuberous sclerosis in pediatric patients presenting with seizures.

Main Methods:

• Retrospective review of CT scans from 3 pediatric patients with confirmed tuberous sclerosis.
• Analysis of brain imaging for characteristic lesions such as demyelination and calcifications.

Main Results:

• Computed tomography revealed numerous low-density areas indicative of brain demyelination in all 3 patients.
• Solitary small subependymal calcifications were observed in the brains of these patients.
• The combination of demyelinating lesions and calcifications was noted.

Conclusions:

• Specific CT findings, including brain demyelination and subependymal calcifications, are suggestive of tuberous sclerosis in pediatric patients.
• These imaging findings, particularly in the context of unexplained seizures, should prompt consideration of tuberous sclerosis diagnosis.
• Early identification through characteristic radiological signs can facilitate timely management of tuberous sclerosis.