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Hypoplastic Internal Carotid Artery Co-Presenting with Neurofibromatosis and Intracranial Masses

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ABSTRACT

Neurofibromatosis type 1 (NF1) is associated with systemic vascular disease, and it can also affect intracranial vasculature in a small percentage of patients. Very rarely, NF1 may co-present with hypoplasia of the internal carotid artery (ICA). Prior reports have documented NF1 with bilateral optic gliomas and a unilateral hypoplastic internal carotid artery; however, we report a case with the aforementioned findings in addition to a right-sided lentiform mass. This case report further suggests a common congenital pathway related to neurofibromin loss of function resulting in both nerve sheath tumors and cerebrovascular anomalies.

No MeSH data available.


Axial CTThe right carotid canal and left hypoplastic carotid canal are demarcated by arrows.
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FIG3: Axial CTThe right carotid canal and left hypoplastic carotid canal are demarcated by arrows.

Mentions: Our patient is an 18-year-old female with known NF1 and bilateral optic gliomas who presented to the neurology department for evaluation of a hypoplastic left ICA demonstrated on a prior CT angiogram at an outside hospital. Given the rarity of a hypoplastic ICA in NF1 patients, workup was initiated with particular attention given to alternate etiologies such as Moyamoya syndrome. The patient had a long-standing history of headaches, chronic left-greater-than-right vision loss, intermittent vertigo, numbness, tingling, and pain. A physical exam confirmed her visual symptoms and demonstrated 4+/5 right upper extremity weakness, hyporeflexia of the left triceps reflex, and diffuse café au lait spots. The patient underwent magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) imaging of the brain (Figures 1-3).


Hypoplastic Internal Carotid Artery Co-Presenting with Neurofibromatosis and Intracranial Masses
Axial CTThe right carotid canal and left hypoplastic carotid canal are demarcated by arrows.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5037063&req=5

FIG3: Axial CTThe right carotid canal and left hypoplastic carotid canal are demarcated by arrows.
Mentions: Our patient is an 18-year-old female with known NF1 and bilateral optic gliomas who presented to the neurology department for evaluation of a hypoplastic left ICA demonstrated on a prior CT angiogram at an outside hospital. Given the rarity of a hypoplastic ICA in NF1 patients, workup was initiated with particular attention given to alternate etiologies such as Moyamoya syndrome. The patient had a long-standing history of headaches, chronic left-greater-than-right vision loss, intermittent vertigo, numbness, tingling, and pain. A physical exam confirmed her visual symptoms and demonstrated 4+/5 right upper extremity weakness, hyporeflexia of the left triceps reflex, and diffuse café au lait spots. The patient underwent magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) imaging of the brain (Figures 1-3).

View Article: PubMed Central - HTML - PubMed

ABSTRACT

Neurofibromatosis type 1 (NF1) is associated with systemic vascular disease, and it can also affect intracranial vasculature in a small percentage of patients. Very rarely, NF1 may co-present with hypoplasia of the internal carotid artery (ICA). Prior reports have documented NF1 with bilateral optic gliomas and a unilateral hypoplastic internal carotid artery; however, we report a case with the aforementioned findings in addition to a right-sided lentiform mass. This case report further suggests a common congenital pathway related to neurofibromin loss of function resulting in both nerve sheath tumors and cerebrovascular anomalies.

No MeSH data available.