Congenital Neck Masses in Children: Understanding, Diagnosis, and Management

Pediatric Surgery Professor Dr. Ali Farooq Abdullah

Congenital Neck Masses in Children Objectives: At the end of this lecture the student should be able to: - Know the common congenital neck masses in children. - Differentiate between common causes of congenital neck masses. - Understand the underlying embryology, anatomy, and pathology. - Manage congenital neck masses in children.

Lymphatic malformations (LM) • Introduction: - LM are usually noted at birth but can manifest at any age or even be identified prenatally on fetal ultrasound. - The etiology of this anomaly is unknown. - LM are classified as microcytic (diameter < 1cm), macrocystic (diameter > 1cm), or combination. - The skin and soft tissues are most commonly affected, but LM can also involve the subcutaneous tissues, muscle, bone, and more rarely, internal organs such as the GI tract and lungs.

Lymphatic malformations (LM) • Clinical features: - LM appear as soft compressible masses, similarly to venous malformations (VM), and may have a bluish hue, although not to the same extent as VM. - The underlying localized soft tissue and skeletal are hypertrophied. - Involvement of the dermis may produce puckering of the skin or vesicles that weep clear yellowish fluid. Diffuse infiltration of the subcutaneous tissue can produce extensive lymphedema.

Lymphatic malformations (LM) - LMs are at risk for infection that can lead to cellulitis or even systemic illness. - Similarly, infections located elsewhere in the body, or viral illnesses, can cause increased size and tension in the LM. - The cystic components of LM are also subject to intralesional bleeding secondary to trauma or abnormal venous connections. - The vesicles from cutaneous involvement can also leak thin sanguineous fluid or appear as red, purple, or black nodules.

Lymphatic malformations (LM)  LM at various anatomic locations are prone to unique associated anomalies. Periorbital LM can lead to proptosis. Facial LM can cause the associated deformities of macrocheilia, macroglossia, and macromala. Overgrowth of the mandible, sometimes massive, can be seen with cervicofacial LM. Congenital airway obstruction is rare but also possible. Lesions of the tongue and floor of the mouth, on the other hand, may more commonly produce obstruction of the oropharynx. LM in the cervical and axillary regions can signal associated LM in the mediastinum.

Lymphatic malformations (LM) Anomalies of the central conducting lymphatic channels, the thoracic duct and cisterna chyli, can lead to very problematic and recurrent chylous effusions that affect the pleural, pericardial, and/or peritoneal cavities. In addition, LM of the GI tract can lead to loss of chyle and subsequent protein losing enteropathy. In the pelvis, associated problems include recurrent infection and bladder outlet obstruction. LM of the extremities are seen in conjunction with overgrowth and limb length discrepancy.

Lymphatic malformations (LM) • Imaging: - Well-localized and cystic LM are easily characterized by ultrasound and CT. - MRI, however, provides the most reliable diagnosis and is best for documenting the full extent of more complex LM as well as their macrocystic and microcystic components. - Cystic rims and intralesional septae are highlighted by contrast enhancement. - The differential diagnosis of these cystic lesions in the infant includes teratoma and infantile fibrosarcoma.

Lymphatic malformations (LM) • Treatment: The indications for LM treatment vary with the extent and location of the lesion. Focal and macrocystic LM are amenable to ablation by both sclerotherapy and resection. In contrast, more diffuse and predominantly microcystic LM are difficult to eradicate by any method. Local intralesional bleeding that causes sudden enlargement of LM and pain, conservative management with rest and pain medications is sufficient.

Lymphatic malformations (LM) Similarly, the enlargement of LM that coincides with systemic viral or bacterial infections can be managed expectantly as it is usually harmless. On the other hand, bacterial infections presenting with cellulitis require treatment. Infected LM become tense and swollen producing erythema, pain, and toxicity; the incidence of this complication is around 15–20%. Treatment consists of systemic antibiotics; hospitalization for intravenous antibiotics is often necessary.

Lymphatic malformations (LM) Indications for ablation or resection include: - recurrent complications with infection. - Cosmesis. - Deformity. - Dysfunction. - Leakage into body cavities or from skin. Commonly used agents: ethanol, sodium tetradecyl sulfate, and doxycycline produce scarring and collapse of the cysts

Lymphatic malformations (LM) • simple, well-localized macrocystic LM, sclerotherapy can ameliorate most lesions. For more diffuse and complex LM, sclerotherapy procedures need to be staged and can lead to significant improvement. • Re-expansion of the lesions to some extent usually occurs. Weeping or bleeding from cutaneous vesicles can be controlled with local sclerotherapy or carbon dioxide laser. • Significant complications from sclerotherapy include injury to adjacent nerves, necrosis of overlying skin, and cardiotoxicity related to the overall dose.

Lymphatic malformations (LM) • Resection for complex LM can also be of significant benefit, but staging is often needed. The operations may be long and tedious, and often require meticulous dissection to preserve vital structures. • The recurrence rate 15-40%, it is secondary to regrowth and re- expansion of unexcised lymphatic channels. • Sclerotherapy can be used either before resection or to cases of recurrence or cutaneous vesicles at the scar area.

Thyroglossal Duct Cyst • Introduction: - One of the most common lesions in the midline of the neck. - Found in 7% of the population and most are asymptomatic. - Although embryonic in origin, it is rare for these lesions to manifest in the newborn period. More commonly, they are noted in preschool- age children.

Thyroglossal Duct Cyst • Embryology: - The embryogenesis of the thyroglossal duct is intimately involved with that of the thyroid gland, the hyoid bone, and the tongue. - The foramen cecum is the site of the development of the thyroid diverticulum. - In the embryo, this structure develops caudal to the central tuberculum impar, which is one of the pharyngeal buds that leads to the formation of the tongue. - As the tongue develops, the thyroid diverticulum descends into the neck, maintaining its connection to the foramen cecum.

Thyroglossal Duct Cyst - Normally, the duct disappears by the time the thyroid reaches its appropriate position by 5 to 8 weeks gestation. - Thyroglossal duct cysts never have a primary external opening because the embryologic thyroglossal tract never reaches the surface of the neck. - A cyst can be located anywhere along the migratory course of the thyroglossal tract if it fails to become obliterated.

Thyroglossal Duct Cyst • Presentation: - Classically, the thyroglossal cysts are located in the midline at or just below the hyoid bone and presents as a painless midline neck mass. - Suprahyoid thyroglossal cysts must be distinguished from submental dermoid cysts and from submental lymph nodes. - On physical examination, the thyroglossal duct cyst is smooth, soft, and nontender. To distinguish this lesion from the more superficial dermoid cyst, one should palpate the lesion while the child sticks out his or her tongue.

Thyroglossal Duct Cyst - One-third of patients will present with a concurrent or prior infection. - One-quarter will present with a draining sinus from spontaneous or incisional drainage of an abscess. - Some patients may present with a foul taste in the mouth from spontaneous drainage of the cyst via the foramen cecum.

Thyroglossal Duct Cyst • Diagnosis: - Patients with findings concerning for hypothyroidism should undergo thyroid function testing and additional imaging to exclude median ectopic thyroid. - The incidence of ectopic thyroid tissue in or near the duct is reported to be from 10–45%, that’s why sometimes thyroid scanning or US is important. - 90% at the base of the tongue. - 1-2% ectopic thyroid tissue.

Thyroglossal Duct Cyst • Treatment: - Surgical excision Infection and abscess Cancer <1% Papillary Excision of the hyoid bone - What to excise ? Excision of the tract Complete excision of the cyst

Thyroglossal Duct Cyst Recurrence 2-5% Higher recurrence due to: - Simple cyst excision alone (recurrence rates of 38–70%). - Intraoperative cyst rupture. - Presence of a cutaneous component secondary to infection. - Postoperative wound infections. - In infected cyst the recurrence is 25%

Thyroglossal Duct Cyst - Infected cyst should be treated with proper AB. - The rout of infection is through the mouth. - Common organisms are Haemophilus influenzae, Staphylococus aureus, and Staphylococcus epidermidis. - If an abscess is collected it should be drained through needle aspiration.

Branchial anomalies - Branchial anomalies represent approximately 30% of congenital neck masses and can present as cysts, sinuses, or fistulae. - They are equally common in males and females and present in childhood or early adulthood. - Branchial anomalies are lined with either respiratory (sinuses and fistulas), or squamous epithelium(cysts).

Branchial anomalies - Complete fistulas are more common than external sinuses. Both are more common than branchial cysts, at least during childhood. - In adults, cysts predominate. - By definition, all branchial remnants are truly congenital and are present at birth.

Branchial anomalies - Cysts are remnants of sinuses without an external opening and usually appear later in childhood than do sinuses, fistulas, and cartilaginous remnants, which appear in infancy. - Sinuses have the persistence of the external opening only, while fistulas involve the persistence of the branchial groove with breakdown of the branchial membrane. - Commonly, the tiny external opening of the fistula and the external sinuses remain unnoticed for some time. - Spontaneous mucoid drainage from the ostium along the border of the sternocleidomastoid muscle (SCM) usually heralds its presence and initiates the parent’s concern and the reason for the child’s referral.

Branchial anomalies - The first clinical presentation may be an infected mass as a result of the inability of the thick mucoid material to drain spontaneously. - Infection is, however, less common in fistulas and external sinuses than in cysts. - The cutaneous openings are occasionally marked by skin tags or cartilaginous remnants.

Branchial anomalies - The tract itself may be palpable. A cordlike structure can sometimes be felt ascending in the neck by hyperextending the child’s neck and making the skin taut. - Compression along the tract may produce mucoid material exiting from the ostium. - The evaluation of these lesions starts with a thorough history and physical examination. - Palpating the tract and observing the mucoid discharge can be confirmatory. - Although colored dye or radiopaque material may be injected to delineate the tract. - Upper endoscopy may be helpful to locate the pharyngeal opening.

Branchial anomalies - Both the pyriform sinus and tonsillar fossas should be examined. - Cysts may be more difficult to diagnose. They lie deep to the skin along the anterior border of the SCM. They can usually be distinguished from cystic hygromas, which are subcutaneous and can be transilluminated. - Ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) can help define the lesion and may be helpful in narrowing the differential diagnosis. - CT is most often used and can demonstrate a fistula in two-thirds of cases. - Barium esophagram has 50–80% sensitivity for third and fourth branchial fistulas. - While fine needle aspiration is necessary in adults to exclude metastatic carcinoma, it is not necessary in children and incisional biopsy should be avoided

Branchial anomalies - The goal of treating all congenital neck sinuses, cysts, and fistulas is usually complete excision, when no inflammation is present. - Timing of resection is controversial with some advocating for early resection to prevent infection while others wait until age 2 or 3 years. - As with thyroglossal duct cysts, if the lesion is infected at clinical presentation, antibiotic therapy and warm soaks to encourage spontaneous drainage of mucoid plugs should precede definitive excision. - Approximately 20% of lesions will have been infected at least once prior to surgery. - Attempts at complete excision in an inflamed, infected field increase the risk of nerve injury and incomplete resection. - Aspiration or limited incision and drainage (I&D) is sometimes necessary to resolve the infection. - Complete surgical excision is delayed until the inflammation subsides and the surrounding skin is supple.

Branchial anomalies - Endoscopic cauterization of fourth branchial cleft sinuses has been described either at the time of initial abscess drainage or four to six weeks later. Recurrence with this technique seems unusual. - Surgical resection is performed under general anesthesia with the positioning. - A small transverse elliptical incision is made around the external opening and deepened beneath the cervical fascia. - The initial dissection is along the inferior border of the incision, so that the ascending tract is identified from below and not injured. - Placement of a 2-0 or 3-0 monofilament suture or probe within the tract can facilitate dissection. Dissection proceeds cephalad, staying on the tract until visualization of the most superior portion of the tract becomes difficult.

Branchial anomalies - At this level, a second, more cephalad, parallel ‘stair-step’ incision or extension of the first incision may be necessary for adequate exposure. - The tract is pulled through the second incision, and the dissection is continued cephalad between the bifurcation of the carotid artery to the point where the tract dives into the pharynx. - The fistula is suture ligated with absorbable suture. The incision is closed in layers with absorbable sutures. - No drains are needed if excision is completed. - Recurrences are rare.

Torticollis  Congenital Acquired Etiologies of congenital torticollis include: - Fibrosis and shortening of SCM. - The head pulled to the affected side - Tumour Vs Trauma

Torticollis • Etiologies of acquired torticollis: Cervical hemivertebrae. Imbalance of the ocular muscles. Klippel–Feil anomalies or a neurologic disorder. Otolaryngologic infection. Gastroesophageal reflux (Sandifer syndrome). Neoplastic condition.

Torticollis - In the typical case, the mass is not found in the newborn period but is noted at the first ‘well-baby’ check-up, some 6 weeks after birth. - The infant has the characteristic posture, with the face and chin rotated away from the affected side and the head tilted toward the ipsilateral shoulder. - With time, facial and cranial asymmetry develop, and a notable flattening of the facial structures on the side of the lesion occurs. This may become irreversible by age 12 years.

Torticollis - The key to successful treatment is early recognition and prompt physical therapy. More than 90% of patients respond to nonoperative management. - The longer the shortening of the muscle persists, the more facial and cranial asymmetry develops, and the deeper the cervical tissues become involved in the process. - The criterion for operation, regardless of age, is the development of facial hemihypoplasia.

Torticollis - The muscle can be divided anywhere, but transection in the middle third, through a lateral collar incision, is the simplest and provides the most aesthetically acceptable scar. - Intensive physiotherapy, including full rotation of the neck in both directions and full extension of the cervical spine, is instituted as soon as possible. For optimal results, application of a soft cervical collar for at least 3 months following fibrous band release is recommended.

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Congenital Neck Masses in Children: Understanding, Diagnosis, and Management