Management of Congenital Macroglossia Due to Lymphatic Malformation in a Child with Review of Literature

ABSTRACT

Lymphangiomas are uncommon congenital hamartomas of the lymphatic system with a marked predilection for the head-and-neck region accounting for 75% of all cases. Lymphangiomas rarely affect the oral cavity. Affected sites in the oral cavity may include the tongue, palate, gingiva, lips, and alveolar ridge of the mandible. The anterior two-thirds on the dorsal surface of the tongue is the most common site for intraoral lymphangiomas leading to macroglossia, similar to the presentation in our case. Congenital macroglossia is a rare clinical condition characterized by an enlarged tongue. This enlargement can lead to a variety of oral and facial problems, with structural deformities such as diastema, disproportionate mandibular growth, and functional disorders such as difficulty in eating and swallowing, speech impairment, or even difficulty in breathing if it is severe. Macroglossia may be attributed to multiple underlying causes. These include conditions such as idiopathic muscular hypertrophy (notably in Beckwith–Wiedemann syndrome), vascular malformations (such as angiomas and lymphangiomas), tumors, and endocrine disorders. Among these causes, lymphangiomatous macroglossia is particularly rare and is characterized by diffuse involvement. This type of macroglossia typically progresses chronically, reaching a developmental plateau at puberty without any spontaneous regression. We report a case of congenital macroglossia in an 8-year-old male due to lymphatic malformation and managed successfully.

INTRODUCTION

Macroglossia refers to painless and long-term tongue enlargement, with protrusion of the resting tongue beyond the teeth or alveolar ridge. It can be classified into true macroglossia, which is primarily characterized by hypertrophy or hyperplasia of the tongue muscles, or pseudomacroglossia, which is secondary to the infiltration of normal tissue by anomalous elements. Venous malformation (VM) and lymphatic malformation (LM) may occur at the tongue, often resulting in macroglossia. A surgical approach tailored to each individual patient’s needs is likely to be the most effective treatment strategy. This is a brief report of the management of congenital macroglossia due to LM by anterior wedge resection (AWR).

CASE REPORT

An 8-year-old boy who underwent excision of sublingual cyst 2 years ago, brought with difficulty in speech to specific syllables, occasional bleeding from the ventral surface of the tongue, intermittent difficulty in breathing during sleep, and physical and social discomfort to opening the mouth. The thyroglossal cyst was suspected on ultrasound of the neck. Computed tomography scan of the head and neck showed swelling medial to the sternocleidomastoid with vascular malformation in the floor of the mouth, buccal mucosa, and in the submental region. On examination, the patient was thin built, not gaining weight, an open mouth with a large tongue protruding outside, a long and deep fissure seen on the dorsum of the tongue, bluish to red in appearance, a nontender swelling felt on the floor of the mouth with no active bleeding. A palpable nontender submandibular lymph node was present on the right side. A dark pigmented patch was seen over the skin on the left side of the upper chest and shoulder. Bilateral upper limbs and lower limbs were normal with no hemihypertrophy. The rest of the systemic examination was normal. Magnetic resonance imaging face, neck, and chest showed macroglossia with altered signals within (T2 hyperintense and T1 hypointense within) suggestive of LM. T2 hyperintense cysts with peripheral enhancement in the floor of the mouth involving bilateral sublingual, submandibular spaces, and mylohyoid muscles. No intracranial extension was seen. The thyroid profile was normal.

An elective glossoplasty was planned. A 4 Fr Nasal armor-reinforced endotracheal tube was placed with a throat pack in place. An inverted Y-shaped incision is marked and AWR was performed [Figure 1]. The defect was approximated with interrupted absorbable sutures after achieving adequate hemostasis. The residual LM over the floor of the mouth was managed subsequently by two doses of injection sclerotherapy with bleomycin under the surface of the jaw on both sides (at a dose of 9 units [at 0.5 U/kg/dose]). The patient was electively ventilated. The postoperative period was uneventful, extubated after 2 days. The patient was started on orals, maintaining strict oral hygiene with regular chlorhexidine mouthwashes. The wound remained healthy. The patient was maintaining saturation 100% on room air, with no difficulty in chewing and swallowing, all the special sensations of the tongue felt, discharged after 6 days. LM of the tongue was confirmed on histopathological examination. The patient had no perioperative complications.

Figure 1.

Showing intraoperative images of the patient with informed consent, performing anterior wedge resection, (a) Nasotracheal intubation with large tongue protruded, (b) Inverted Y-shaped incision marking, (c and d) Incision over the marking and wedge-shaped resection of the anterior tongue (anterior wedge resection), (e) Glossoplasty with absorbable sutures, (f) Tongue fallen back into the oral cavity

On follow-up after 18 months, the patient maintained normal speech and a soft diet, he was able to close his mouth completely with aesthetic outcome was excellent. No further episodes of bleeding from the tongue were seen. A follow-up image comparing the macroglossia before tongue reduction surgery has been shown Figure 2.

Figure 2.

Showing the clinical image before and after the tongue reduction surgery, with the mouth able to close comfortably, no protrusion seen spontaneously. (Only upon asking the patient to protrude his tongue, we could see it)

DISCUSSION

Macroglossia can be classified into congenital and acquired. Congenital macroglossia may be caused by vascular malformations, Down syndrome, Beckwith–Wiedemann syndrome,[1] Prader–Willi syndrome, or congenital hypothyroidism. Acquired macroglossia can be further divided into chronic and acute macroglossia. Chronic macroglossia is caused by tumor, amyloid degeneration, or myxedema. Based on etiology, acute macroglossia is classified by Renehan and Morton into four types: hemorrhagic, infection, infarction, and allergic edema.[2]

Congenital vascular abnormalities are some of the most common diseases in the oral and maxillofacial region. Vascular malformations can be categorized into low-flow lesions (VM-VMs and LM-LMs) and high-flow lesions based on blood flow characteristics. In our case, the histopathology of the resected tongue confirmed the LM [Figure 3].

Figure 3.

(a) Scanner view H and E, ×4 staining of the tongue section showing normal squamous epithelium lining the mucosa of the tongue (marked by yellow indicator), Hyperplastic mucosa with dilated lymphatics containing lymph (marked by blue indicator), Subepithelium showing dilated lymphatic channels traversing between the tongue muscles (encircled in orange color), muscle bundles of the tongue muscles (shown in black dotted circle), (b) Immunohistochemical staining of the tongue (Low power view, ×10) showing the immunohistochemical marker D2-40 (PODOPLANIN) highlighted in brown color lining representing the lymphatic endothelium of the dilated lymphatics (marked here by purple indicator) between the normal tongue mucosa (shown in orange stars)

The main objective of the treatment of tongue lymphangiomas is the preservation of the taste sensation and restoration of the tongue size for articulation. On reviewing the literature, the various modalities used for lymphangioma are surgical excision, radiation therapy, cryotherapy, electrocautery, sclerotherapy, steroid administration, embolization, and ligation, laser surgery with Nd-YAG and Carbon dioxide (CO2), and radiofrequency tissue ablation technique. Various sclerosing agents have been tried in lymphangiomas such as hypertonic saline, 25% dextrose, sodium tetradecyl sulfate, tetracycline, doxycycline, pure ethanol, bleomycin, and OK- 432.[3]

Recurrence is common in lymphangiomas because of its infiltrative nature. Surgical excision is the treatment of choice as lymphangiomas are encapsulated or partially circumscribed. Thus, the only potential for a definitive cure of LM is surgical resection. It is recommended before the anterior teeth have been completely replaced by adult teeth (approximately 7 years of age). Numerous surgical techniques have been developed for the treatment of macroglossia. Yang et al.[4] suggested that knowledge of the anatomy of the tongue and the position of the lingual nerve is essential to allow safe performance of surgical tongue reduction for the treatment of macroglossia.

According to Hettinger and Denny, these procedures can be divided into 1 of 6 categories, which include tip amputations, AWR, central reductions (CRs), dorsal flap excisions, marginal excisions, and combination procedures.[5] The results of the literature demonstrate that the majority of procedures were performed by the removal of tongue tissue in the midline via AWR or CR as in our case, we have performed tongue reduction by AWR. Submucosal minimally invasive lingual excision is a novel technique for treating tongue base obstruction in both pediatric and adult patients using an ultrasonic aspirator.[6] Postoperative management with systemic steroids can be done to avoid postoperative edema of the tongue and intensive care unit monitoring is required for possible airway obstruction. Wound dehiscence and recurrence of macroglossia are the most common possible postoperative complications. No such complications were seen in our patient.

CONCLUSION

This is a rare entity of congenital macroglossia with LM in the pediatric population. Our case of congenital macroglossia has been managed by AWR method as recommended by the literature in most of the studies and it has given us expected aesthetic outcomes as well. Thus their early recognition allows proper initiation of treatment and prevents the occurrence of complications as in our case. However, long-term monitoring is required for the recurrence.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal the identity, but anonymity cannot be guaranteed.

Conflicts of interest

There are no conflicts of interest.

Funding Statement

Nil.