Concomitant vagal neurofibroma and aplasia of the internal carotid artery in neurofibromatosis type 1.
We report the case of a patient with neurofibromatosis Neurofibromatosis Definition
Neurofibromatosis (NF), or von Recklinghausen disease, is a genetic disease in which patients develop multiple soft tumors (neurofibromas). These tumors occur under the skin and throughout the nervous system. type 1 who had both aplasia aplasia /apla·sia/ (ah-pla´zhah) lack of development of an organ or tissue.aplas´tic
aplasia axia´lis extracortica´lis conge´nita familial centrolobar sclerosis. of an internal carotid artery (ICA) and a vagal vagal /va·gal/ (va´gal) pertaining to the vagus nerve.
Of or relating to the vagus nerve.
pertaining to the vagus nerve. neurofibroma neurofibroma /neu·ro·fi·bro·ma/ (-fi-bro´mah) a tumor of peripheral nerves due to abnormal proliferation of Schwann cells.
n. . To our knowledge, this is the first report in the literature of the simultaneous presence of these two rare disorders in a single patient. We believe that this is also the first report of an absence of an ICA in a patient with neurofibromatosis type 1. The patient was a 19-year-old woman who complained of a slowly growing neck mass. The mass occupied the right parapharyngeal space and upper cervical region. The patient had no other masses on physical examination, but widespread cafe au lait spots ca·fé au lait spots
Uniformly light brown, sharply defined, and usually oval-shaped patches of the skin characteristic of neurofibromatosis, though also found in healthy individuals. were evident. This led us to suspect the presence of a vagal neurofibroma. The tumor was removed, and pathology confirmed the diagnosis. No intracranial aneurysms were detected on cerebral angiography.
Failure of all or part of an organ to develop during embryonic growth. Many forms of agenesis are lethal, such as absence of the entire brain (anencephaly), but agenesis of one organ of a pair may cause little problem. of the internal carotid artery (ICA) is a rare congenital disorder that was first described by Tode in 1787.  Only about 100 cases have been reported to date. The first radiologic demonstration of this anomaly was made by Verbiest during his angiographic study in 1954. 
Neurofibroma of the vagus vagus /va·gus/ (va´gus) pl. va´gi [L.] the vagus nerve.
n. pl. va·gi
The vagus nerve.
the tenth cranial nerve. is also rare; when it does occur, it can involve any part of the nerve throughout its cervical course. [2,3] Vagal neurofibromas are usually slow-growing, asymptomatic tumors. They can appear sporadically or in association with neurofibromatosis (von Recklinghausen's disease von Reck·ling·hau·sen's disease
von Recklinghausen's disease Neurofibromatosis, type 2 Neurology An AD condition characterized by cafe-au-lait skin spotting and pendulous fibrous tumors. ). 
In this article, we describe the case of a patient with neurofibromatosis type 1 who had an absence of an ICA (on the left) and a vagal neurofibroma (on the right). To our knowledge, this is the first report in the literature of these two disorders occurring in the same patient and the first report of an ICA aplasia in a patient with neurofibromatosis type 1.
A right-handed, 19-year-old woman complained of a mass on the right side of her neck that had been present for 12 months. She was admitted to the hospital. She had no personal history of hoarseness, seizures, or benign neural neoplasms and no family history of neurofibromatosis.
On otolaryngologic examination, her ears, nose, laryngeal structures, and both vocal folds were normal. On oropharyngeal oropharyngeal /oro·pha·ryn·ge·al/ (-fah-rin´je-al)
1. pertaining to the mouth and pharynx.
2. pertaining to the oropharynx. examination, a minimal medial displacement of the right palatine tonsil and soft palate was evident. Findings on transnasal endoscopic examination of the nasopharynx were normal.
Visual inspection revealed that the woman had bilateral axillary ax·il·lar·y
Relating to the axilla.
Located in or near the armpit.
Mentioned in: Mastectomy
of or pertaining to the armpit. freckling and multiple cafe au lait spots larger than 2 cm on her back, abdomen, and both pretibial regions. On palpation palpation /pal·pa·tion/ (pal-pa´shun) the act of feeling with the hand; the application of the fingers with light pressure to the surface of the body for the purpose of determining the condition of the parts beneath in physical diagnosis. , a firm, semimobile, painless, well-circumscribed, nonpulsatile, 4-cm mass was detected medial to the right mandibular angle and upper cervical region deep to the sternocleidomastoid muscle. No other neck mass, lymphadenopathy lymphadenopathy /lym·phad·e·nop·a·thy/ (-op´ah-the) disease of the lymph nodes.
angioimmunoblastic lymphadenopathy , angioimmunoblastic lymphadenopathy with dysproteinemia , or cutaneous neurofibroma was palpable. Results of a neurologic examination were normal except for a minor motor deficit in the right upper extremity.
Computed tomography (CT) of the neck revealed a well-circumscribed, heterogeneous, hypodense, 4.5-cm mass between the jugular foramen and the root of the neck on the right at the level of the oropharynx oropharynx /oro·phar·ynx/ (-far´inks) the part of the pharynx between the soft palate and the upper edge of the epiglottis.
n. (figure 1). No cervical lymph nodes Cervical lymph nodes are lymph nodes found in the neck. Anterior cervical nodes
The anterior cervical nodes are a group of nodes found on the anterior part of the neck. were apparent.
During our review of the CT image, we noted that the bony canal for the ICA on the left was hypoplastic Hypoplastic
Incomplete or underdevelopment of a tissue or organ. Hypoplastic left heart syndrome is the most serious type of congenital heart disease.
Mentioned in: Congenital Heart Disease
adj . Therefore, we ordered selective angiography of the carotid and vertebral arteries to document the status of both ICAs as well as to ascertain the vascular nature of the mass. Angiography revealed that the left ICA was absent (figure 2). Left anterior and middle cerebral arterial flow was maintained through the anterior communicating artery In human anatomy, the anterior communicating artery is a blood vessel of the brain that connects the left and right anterior cerebral arteries.
The anterior communicating artery connects the two anterior cerebral arteries across the commencement of the longitudinal fissure. . The vertebral arteries and the right internal and external carotid arteries were patent and normal. No intracranial aneurysm was present. As for the mass itself, it appeared to displace the right ICA medially, but it was not vascular.
Cranial CT demonstrated a left cerebral hemiatrophy and a secondary enlargement of the left lateral ventricle. Cranial CT confirmed the earlier neck CT finding that the left bony canal for the ICA was hypoplastic (figure 3).
The presence of the cafe au lait spots and the CT appearance of the mass led us to suspect that the patient had a neural tumor, and surgical resection was planned. (CT is mandatory during the preoperative assessment of any parapharyngeal mass. ) The mass was surgically removed via a transcervical approach. Intraoperatively, it became evident that the grayish-pink mass had originated in the vagus nerve vagus nerve
Either of the tenth pair cranial nerves that originate from the medulla oblongata and supply multiple vital organs, including the lungs, heart, and gastrointestinal viscera. and had displaced the right ICA medially and the internal jugular vein internal jugular vein
A vein that is a continuation of the sigmoid sinus of the dura mater and unites behind the cartilage of the first rib with the subclavian vein to form the brachiocephalic vein. posteriorly. The mass was bluntly dissected from the major vessels of the neck, but it was not possible to dissect it from the vagus nerve. Therefore, the vagus nerve was severed at the level of the clavicle clavicle /clav·i·cle/ (klav´i-k'l) collar bone; a bone, curved like the letter f, that articulates with the sternum and scapula, forming the anterior portion of the shoulder girdle on either side. . The lateral traction of the mandible enabled us to dissect the mass in the parapharyngeal space. The entire mass was excised. No major bleeding occurred. Histopathology confirmed that the mass was a neurofibroma (figure 4).
Postoperatively, the woman experienced tachycardia (which responded well to beta blocker therapy), right vocal fold paralysis, hoarseness, and a minimal degree of dysphagia. Aspiration was not a major problem. She was discharged from the hospital on postoperative day 10 without any complications.
ICA anomalies. Congenital ICA anomalies can be classified as agenic, aplastic a·plas·tic
1. Unable to form or regenerate tissue.
2. Of, relating to, or characterized by aplasia.
Exhibiting incomplete or faulty development. , or hypoplastic. The absence of the ICA is the result of either agenesis or aplasia. The term a genesis is used when both the ICA and its bony canal are absent; aplasia refers to a situation where the ICA is absent but there is some evidence of a bony canal. Our patient had ICA aplasia, because angiography showed that the ICA was absent while CT showed that a small portion of the bony canal was present. Intracranial aneurysms have been reported in 25% of patients with ICA agenesis.  No intracranial aneurysm was detected in our patient.
Patients with ICA anomalies can be asymptomatic. In such cases, the diagnosis can be delayed until a neurologic manifestation appears. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that were dilated to compensate for the absence of the ICA, or the presence of an aneurysm.  Our patient's chief complaint was the presence of the cervical mass; her complaint had no relation to her ICA aplasia. Aside from the presence of the mass, she was asymptomatic, except for the minimal motor deficit in her right upper extremity.
Vagal neurofibromas. Vagal neurofibromas have been reported sporadically as well as in patients with neurofibromatosis.  Our patient had neurofibromatosis type 1. These rare tumors exhibit no predilection toward either sex.  Patients are usually asymptomatic, although dysphagia or hoarseness might be evident secondary to Xth cranial nerve paralysis. [2,3,6]
Agenesis of an ICA has been reported in patients with neurofibromatosis type 2,  but until now there has been no report of its occurrence in either a patient with neurofibromatosis type 1 or a patient with a vagal neurofibroma.
Because our patient had no ICA on the left, it was important that we preserve the ICA on the right during surgical resection of the mass on the right, and this we were able to accomplish.
The hemicerebral atrophy in our patient was presumed to be related to vascular insufficiency caused by the aplasia of the left ICA. Another case of hemicerebral atrophy with an absence of an ICA has been reported in the literature. 
Neurofibromas have been reported to undergo a malignant transformation in approximately 8% of patients with neurofibromatosis.  Irradiation has been reported to cause neurofibromas to change into a neurofibrosarcomas in patients with neurofibromatosis. 
Surgical resection is the treatment of choice for a vagal neurofibroma. Because it is a benign tumor, the surgeon should attempt to preserve the nerve. This might not be possible when the tumor absorbs nerve axons as it grows. 
The authors gratefully acknowledge the kind assistance provided by Dr. Murat Ozcan during the preparation of the article.
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