What is Macroglossia: Causes, Symptoms, Treatment, Diagnosis, Prevention

What is Macroglossia?

When the tongue becomes enlarged in comparison to the other structures of the mouth, it is termed as Macroglossia. Mostly, it occurs secondary to a primary disorder that may be congenital i.e. present since birth or acquired. Rarely, macroglossia is an isolated and congenital feature. In some of the cases, the tongue may bulge out from the mouth. Although the exact percentage of population suffering from this disease is unknown, the condition is mostly found in syndromes like Down syndrome and Beckwith-Wiedemann syndrome. In Beckwith-Wiedemann syndrome, almost 97% of the patients suffer from macroglossia.

What is Macroglossia?

Symptoms of Macroglossia

In the congenital disorder, the enlargement of the tongue may cause difficulty in feeding the infant. Talking gets affected too because of Macroglossia. The large size causes abnormal development of teeth and jaw that results in protruding teeth. Dying tissue and ulceration on the edge of the tongue are some other symptoms of Macroglossia. An enlarged tongue interferes with eating and breathing. Breathing problems may give rise to snoring, stridor, and sleep disturbances. The sleep disturbances get aggravate due to blockage in the airways for patients in supine position. Regarding the oral cavity of the digestive tract, food intake gets complicated significantly. The patients suffering from Macroglossia cannot hold the saliva in their mouth, have difficulty in chewing and swallowing the food and sometimes may drool too. Children with Macroglossia take time to speak and may face problem to pronounce certain words. Moreover, it increases the risk of trauma, i.e. biting one’s tongue gets increased. Trauma can lead to ulceration and infection of the tongue.

Causes of Macroglossia

Macroglossia can occur as a result of both congenital and acquired reasons. Some congenital causes of Macroglossia include the following:

  • Salivary gland tumor
  • Idiopathic tongue muscle hypertrophy
  • Hemangioma
  • Lingual thyroid
  • Hamartomas
  • Syndromes like Beckwith-Wiedemann, Laband and Behmel

The acquired causes of Macroglossia include the following:

Macroglossia can occur due to inflammatory and traumatic reasons too. The inflammatory causes of Macroglossia are:

The traumatic causes of Macroglossia are:

  • Direct Trauma
  • Hemorrhage
  • Intubation injury
  • Neoplastic conditions may cause this disease too like lymphangioma and various malignancies.

Diagnosis of Macroglossia

The diagnosis of macroglossia is based upon the clinical examination of the patients. The macroglossia can be diagnosed through mandibular or by upper and lower jaw deformities. Knowing the patient’s as well as his family history and also thorough physical examination are useful indicators of diagnosis. A laboratory test of the blood samples, histopathological examination of aspirates and microbiological swabs culture are used to identify the endocrinological and metabolic disorders. Tongue biopsies can be done after securing the airways of the patient. Physicians who take the tongue biopsies are prepared for hemorrhage. The magnetic resonance imaging of pharynx and larynx are indicators of the airway obstructions and sleeping disturbances. Radiology can evaluate the jaw and dental anomalies.

Treatment for Macroglossia

Medical treatment of macroglossia is helpful when the disease has been truly diagnosed i.e., either caused due to infection, hypothyroidism or amyloidosis. If the etiology of Macroglossia is not clear, no medical treatment can be useful. The minor procedures that have been performed on patients with macroglossia include cautery, soft tissue destruction or use of sclerosing agents. These procedures are targeted at the tongue bases and not at the tongue where global enlargement is seen.

Malignant neoplasms are managed by chemoradiation and surgery that depends on the type and susceptibility though cancer in the tongue’s anterior part is resected surgically. The mechanical therapy is helpful in macroglossia with hypotonicity. This treatment is carried out through the complex electrical stimulation.

Different shapes of keyhole tongue resection can be used, depending on its size. These have proved to be successful in restoring the tongue function while some of the reaction types have proved to be better than others. The keyhole method is the most popular method of resection. Along with the width of the tongue, it also reduces the anterior-posterior size. The description of this method includes the resection of the tongue’s tip.

Swelling is the biggest threat post-operation. However, in case a tracheostomy is performed before the surgery the threat reduces greatly. The administration of antibiotics and steroids are common after the operation and at the same time if the tongue’s motion is limited post-surgery it reduces the pain and inflammation. Liquids soothe the tongue. When the tongue does not pose any obstruction to airway for the patient and he is able to take oral diet properly, he is released from the hospital.

Prevention of Macroglossia

Regarding the genetic forms of macroglossia, genetic counseling can be helpful. Numerous genetic disorders are detected in the early pregnancies and if it is too severe, abortion is recommended.

Conclusion

The successful treatment of Macroglossia may call for a multidisciplinary approach. If the enlargement of the tongue is due to systemic disease, medical management is sufficient. Surgical reduction gives the best result in the treatment of Macroglossia. Surgery is required in most of the secondary macroglossia cases. In case of infants, surgery may be required within 7 months of age. If the disease is detected at an early stage it treatment becomes easy. Conservative methods of treatment have limited usefulness. Thyroxine for hypothyroidism provides therapeutic benefit. There is no requirement of treatment in mild cases.

Macroglossia is an uncommon disease and generally, it is found in children. In almost 6% of the cases, it is said to be have occurred in patients having a positive family history. Macroglossia is listed as a rare disease by the National Organization of Rare disorders.

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