SPR Unknown # 38 -- FINAL

Jim Gehl MD

Northwestern University

Jessica Stern, MD

CMH

Keywords

ICA aneurysm tuberous sclerosis 1630


Publication Date: 2010-06-13

History

Rhabdomyoma noted on prenatal ultrasound; macrocephaly

Findings

There is a fusiform aneurysm of the cavernous and supraclinoid segments of the left internal carotid artery.

Numerous subependymal nodules.

Diagnosis

ICA aneurysm; tuberous sclerosis

Discussion

Tuberous sclerosis is an autosomal dominant disorder with variable expressivity characterized by multi-organ system hamartomatous involvement. Up to 50% of cases are believed sporadic.

The classical triad of mental deficiency, epilepsy and facial angiofibromas is present in less than 50% of pateients. Epilepsy, with or without mental retardation, is the most common clinical presentation.

Intracranial abnormalities include subependymal hamartomas in 95% of patients with tuberous sclerosis, cortical tubers, subependymal giant cell astrocytomas, retinal phakomas, and heterotopias.

Aneurysms have been reported, but predominantly in the thoracic and abdominal aorta. A majority of reported cases involving the intracranial circulation involve the intracranial internal carotid artery. These aneurysms occur at a greater frequency than in the general population.

References

  1. Anne G. Osborn; Diagnostic Radiology, 1994, Chapter 5, Pages 93-98.
  2. Slovis, Thomas L. ed. Caffey’s Pediatric Diagnostic Imaging, 11th ed.Mosby Elsevier, Philadelphia, PA. 2008. p2709-10.
  3. Beltramello A., et al. Does the tuberous sclerosis complex include intracranial aneurysms? Pediatr Radiol (1999) 29: 206-211.
  4. DiMario Jr. F, et al. Brain Abnormalities in Tuberous Sclerosis Complex. J Child Neurol 2004; 19; 650.

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