Korean J Leg Med.  2013 Feb;37(1):34-37. 10.7580/kjlm.2013.37.1.34.

Aneurysmal Rupture of the Internal Carotid Artery in a Presumed Neurofibromatosis Type I Patient

• Na JY
• Park JP
• Kim DW
• Won YJ
• Kim HJ

• KMID: 2250278
• DOI: http://doi.org/10.7580/kjlm.2013.37.1.34

Abstract

Aneurysm of the internal carotid artery is a rare disease and is known to be associated with congenital arterial anomalies such as neurofibromatosis type I (NF-I). NF-I is an autosomal dominant neurocutaneous disorder characterized by a variety of manifestations that involve the central and peripheral nervous systems, skin, vascular system, and skeleton. In particular, the involvement of vascular abnormalities in NF-I is well known. Any vessel may be affected by this condition, although the renal artery is most frequently involved. The vascular abnormality can be occlusive or an aneurysmal degenerative change. Therefore, symptomatic presentations might assume an indolent pathophysiologic course such as hypertension, or manifest as a catastrophic event such as arterial rupture that could result in sudden death. We report a rare autopsy case of an aneurysmal rupture of the internal carotid artery in a woman with suspected NF-I, who collapsed in her home.

Keyword

Aneurysmal rupture; Autopsy; Internal carotid artery; Nerurofibromatosis type I

MeSH Terms

Aneurysm
Autopsy
Carotid Artery, Internal
Death, Sudden
Female
Glycosaminoglycans
Humans
Hypertension
Neurocutaneous Syndromes
Neurofibromatoses
Neurofibromatosis 1
Peripheral Nervous System
Rare Diseases
Renal Artery
Rupture
Skeleton
Skin
Glycosaminoglycans

Figure

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  Fig. 1. Postmortem examination shows no evidence of external injury, but swelling and subcutaneous hemorrhage in the right neck and shoulder region are noted.

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  Fig. 2. Numerous cafe′au lait spots are multifocally formed on the body.

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  Fig. 3. A hyperpigmented mass is noted above the lateral malleolus of the left ankle.

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  Fig. 4. Internal examination reveals aneurysmal rupture of the right internal carotid artery.

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  Fig. 5. Disrupted elastic lamina and thickened tunica intima are noted accompanying spindle cell proliferation (Fig. 5a, H&E, x40; 5b, H&E, x100; 5c, elastic stain, x40). Proliferating spindle cells which are positive on the smooth muscle actin (SMA) are presented in the tunica intima of the right internal carotid artery (Fig. 5d, SMA, x100).

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