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[Abdominal aortic aneurysm and Bourneville's tuberous sclerosis]
M P Lavocat1, G Teyssier, D Allard
1Service de pédiatrie, hôpital Nord, CHRU Saint-Etienne, Saint-Priest-en-Jarez, France.
Pediatrie
|January 1, 1992
Summary
Tuberous sclerosis diagnosed in newborns can lead to rare aortic aneurysms. This case highlights a fatal aortic rupture in an infant with tuberous sclerosis complex.
Area of Science:
- Cardiology
- Pediatric Oncology
- Medical Genetics
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder with variable clinical manifestations.
- Cardiac and vascular anomalies are rare but serious complications of TSC.
- Neonatal diagnosis of TSC often relies on characteristic physical and neurological findings.
Observation:
- A neonate was diagnosed with tuberous sclerosis based on intracardiac tumors, rib anomalies, and cerebral calcifications.
- At 4.5 months, the infant developed acute abdominal pain.
- Imaging revealed a giant ectasia of the abdominal aorta, consistent with an aortic aneurysm.
Findings:
- The infant presented with a massive abdominal aortic aneurysm.
- The aortic aneurysm was identified via ultrasound and confirmed with CT scan.
- The infant experienced a fatal rupture of the aortic aneurysm two days after diagnosis.
Implications:
- This case underscores the potential for severe vascular complications, such as aortic aneurysms, in infants with tuberous sclerosis.
- Early recognition of vascular abnormalities in TSC patients is crucial for timely intervention.
- Further research into the pathogenesis of vascular disease in TSC may improve patient outcomes.