A 9-year-old boy presents with neck mass

A 9-year-old boy was seen for follow-up of a neck mass noted several years earlier. He first presented with this finding at 3 years of age, when during an otherwise unremarkable examination, he became upset, and a protuberant swelling was noted in the anterior aspect of the right side of his neck. The mass was soft and presented as a bulge just above his right clavicle, and as quickly as it appeared, it disappeared as the child relaxed. At his initial presentation, the child had no history of head or neck trauma or any recent illnesses. He also had full range of motion of his neck, with no complaints of pain, nor was the area erythematous or tender to palpation. This swelling had not been observed at home before this time.

Evaluation and testing

After discussion with his parents, the child was referred to cardiology for further evaluation of a possible vascular etiology.

The child’s cardiology examination was within normal limits with the only remarkable finding of a small, bluish, and nonpulsatile mass seen at the anterior aspect of his right lower neck, but only when the child was fussing. An electrocardiogram and an echocardiogram were both normal.

Given his normal cardiac evaluation, a neck ultrasound was done to evaluate further for a possible arteriovenous or dilated venous malformation.

The ultrasound demonstrated a prominent venous structure arising from the right subclavian vein, passing posteriorly and close to the junction of the jugular and subclavian veins, with similar findings noted on the left as well. These findings were thought to represent a branch of the external jugular vein.

Further evaluation was recommended, and the patient later underwent an MRI of his neck (with and without contrast) as well as a magnetic resonance angiography (without contrast). These studies were also normal, demonstrating no overt abnormalities.

Following the above evaluation and imaging studies, the patient was seen by a pediatric otolaryngologist for additional assessment of his neck finding. His examination continued to remain entirely within normal limits with no neck swelling appreciated. It was postulated that the mass may represent the dome or apex of his right lung when he inspired deeply, and observation was recommended.

Differential diagnosis

Neck masses in children^1,2 are often categorized as developmental/congenital, inflammatory, infectious, or neoplastic in origin and may be further categorized by location and appearance of the mass as noted in Table 1.

Table 1. Classification of Neck Masses by Location and Appearance

The brief review in this article will focus on lateral neck masses as classified in Table 2.

Table 2. Classification of Lateral Neck Lesions in Children

Patient course

After several years of observation and continued questions for a definitive diagnosis, this patient, now aged 9 years, underwent reevaluation. Once again, he was noted to have a persistent right anterior neck mass when performing a Valsalva maneuver, which he could now do voluntarily. He was once again referred to another otolaryngologist who thought the mass was vascular in nature. After discussion with a vascular surgeon, who reviewed this patient’s history and physical findings, the diagnosis of jugular phlebectasia was made (Figure 1 and Figure 2).

Figure 1. Phlebectasia - The patient, aged 3 years, shown while fussing.

Figure 2. Phlebectasia - The same patient, aged 9 years, performing a Valsalva maneuver.

A phlebectasia, also known as an internal jugular phlebectasia (IJP), is a rare vascular anomaly of the neck veins that most often arises from the internal jugular vein. However, any neck vein can be affected, including the external jugular, anterior jugular, and superficial communicus.³ It is described as an abnormal fusiform dilation of a vein, with an unclear etiology.

The first case report of a phlebectasia was published by Zukschwerdt in 1929 and further characterized by Gerwig in 1952.⁴

Phlebectasias^5-7 are classically unilateral, occurring most often on the right side, although bilateral phlebectasias have been reported. They occur twice as often in male patients and are most often an incidental finding during a physical examination (as was in this patient). Phlebectasia predominantly appears as a localized, nontender, compressible, and clearly demarcated swelling in the anterior neck, when a patient increases their intrathoracic pressure when straining, coughing, performing a Valsalva maneuver, or crying and fussing, as noted with our patient. When auscultated, no bruit is heard. Other symptoms may include paralysis of the vocal cords and changes in voice quality as well as possible dysphagia, caused by the proximity of the IJP to the vagus nerve and other lower cranial nerves to the IJP.⁶

The appearance of this finding upon straining limits the possibilities of the differential diagnosis to a laryngocele or superior mediastinal mass, in addition to the inflation of a pulmonary apical bullae and phlebectasias.

Phlebectasias tend to be asymptomatic without serious consequences. However abnormal vascular blood flow may potentially lead to thrombus formation, which is more frequent in adults than children.⁷ Horner syndrome has also been described.⁸ 

Conservative treatment is the mainstay for IJP in pediatric cases, while surgical resection may be considered in adult and pediatric cases as well. Other therapies consist of endovascular angioplasty, surgical wrapping, and endoscopic resection. Most literature supports conservative treatment for asymptomatic patients. A rupture of a phlebectasia has never been described.

Our patient continues to be followed by vascular surgery on a routine basis and no additional intervention has been recommended at this time.

Acknowledgement

I would like to thank Carlos Neves, MD, for his contribution to the preparation of this case presentation.

References

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3. Bindal SK, Vasisth GO, Chibber P. Phlebectasia of internal jugular vein. J Surg Tech Case Rep. 2012;4(2):103-105. doi:10.4103/2006-8808.110266

4. Bhattacharya D, Endrakanti M, Kumar R. Right internal jugular vein phlebectasia: a rare cause of neck swelling. Case Rep Pediatr. 2017;2017:9278728. doi:10.1155/2017/9278728

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8. Inci S, Bertan V, Kansu T, Cila A. Horner’s syndrome due to jugular venous ectasia. Childs Nerv Syst. 1995;11(9):533-535. doi:10.1007/BF00822844