Vascular involvement in tuberous sclerosis.

Area of Science:

• Vascular Medicine
• Pediatric Nephrology
• Medical Imaging

Background:

• Tuberous sclerosis (TS) is a genetic disorder that can affect multiple organs, including the vasculature.
• Vascular abnormalities such as aneurysms and arterial stenotic-occlusive disease are rare but documented complications in TS patients.
• Early recognition and management of vascular issues are critical for patient outcomes.

Observation:

• This study presents three pediatric cases of TS with severe vascular abnormalities.
• Case 1: A 14-month-old girl with TS, polycystic kidneys, and cerebral tubers had a large abdominal aortic aneurysm.
• Case 2: An 18-year-old female with TS experienced abdominal pain due to >70% celiac artery stenosis.
• Case 3: A 2-year-old boy with TS presented with hypertension and was diagnosed with mid-aortic syndrome and bilateral renal artery stenosis.

Findings:

• Noninvasive vascular imaging modalities were instrumental in the diagnosis and surveillance of vascular complications in all three pediatric TS patients.
• The cases illustrate a spectrum of vascular involvement, including aortic aneurysms, renal artery stenosis, and celiac artery stenosis.
• These findings underscore the importance of a high index of suspicion for vascular abnormalities in children with TS.

Implications:

• The collaborative efforts between pediatric nephrologists and cardiovascular imagers are essential for the comprehensive diagnosis and management of vascular complications in TS.
• Timely and accurate diagnosis using noninvasive imaging can lead to improved management strategies for vascular abnormalities in pediatric TS.
• Increased awareness and a proactive approach are necessary to address the rare but significant vascular manifestations of tuberous sclerosis in children.