What causes macroglossia (enlarged tongue)?

From the Guidelines

Macroglossia, or muscle enlargement of the tongue, is most commonly caused by genetic disorders such as Beckwith-Wiedemann Syndrome (BWS), which is characterized by pre- and postnatal overgrowth, including macroglossia, as noted in a 2017 study published in Clinical Cancer Research 1.

Causes of Macroglossia

The causes of macroglossia can be diverse, including:

• Genetic disorders: BWS, Down syndrome, and other overgrowth syndromes
• Endocrine disorders: Acromegaly, hypothyroidism
• Inflammatory conditions: Infections, allergic reactions, angioedema
• Tumors: Benign and malignant tumors affecting the tongue
• Neuromuscular disorders: Conditions affecting the intrinsic and extrinsic muscles of the tongue
• Congenital vascular malformations: Abnormal blood vessel formations within the tongue

Diagnosis and Treatment

Diagnosis of the underlying cause of macroglossia is crucial for appropriate treatment, which may include:

• Hormone replacement therapy for endocrine disorders
• Medication management for inflammatory conditions
• Surgical intervention for tumors or severe cases of macroglossia
• Speech and language therapy to address difficulties with speaking and eating As noted in the study on BWS, the incidence of this syndrome is approximately 1 in 10,500 births, and it is associated with an increased risk of embryonal tumors, including Wilms tumor and hepatoblastoma 1.

Importance of Early Diagnosis

Early diagnosis and treatment of macroglossia are essential to prevent complications such as:

• Difficulty speaking and eating
• Breathing difficulties
• Social and emotional distress due to cosmetic concerns In conclusion is not allowed, so the information will be provided in the following paragraphs.

Genetic Disorders and Macroglossia

Genetic disorders such as BWS are a significant cause of macroglossia, and understanding the genetic basis of these conditions can inform diagnosis and treatment, as discussed in the 2017 study published in Clinical Cancer Research 1. The study highlights the importance of genetic testing and counseling for families affected by BWS and other overgrowth syndromes.

Management of Macroglossia

Management of macroglossia requires a multidisciplinary approach, involving healthcare professionals from various specialties, including:

• Genetics
• Endocrinology
• Surgery
• Speech and language therapy
• Psychology By working together, healthcare professionals can provide comprehensive care and support to individuals with macroglossia, addressing their physical, emotional, and social needs.

From the Research

Causes of Muscle Enlarged Tongue

• Macroglossia, a condition characterized by the abnormal enlargement of the tongue, can be caused by various medical conditions, including genetic, congenital, and acquired disorders 2.
• Major endocrine and metabolic disorders associated with macroglossia include mucopolysaccharidoses, hypothyroidism, myxedema, transient neonatal diabetes mellitus, acromegaly, and amyloidosis 2.
• In Beckwith-Wiedemann syndrome (BWS), macroglossia is attributed to skeletal muscle hyperplasia, resulting in an enlarged tongue 3.
• The underlying cause of macroglossia in BWS remains unknown, but histological studies have shown that it is consistent with true macroglossia, resulting from skeletal muscle hyperplasia 3.
• Macroglossia in BWS can compromise the airway, cause dysphagia, drooling, and poor cosmesis, and can also lead to dentoskeletal discrepancy, protrusion of teeth, and speech abnormalities 4.

Associated Conditions

• Macroglossia is often associated with mucopolysaccharidoses, particularly type I (Hurler syndrome) and type II (Hunter syndrome) 2.
• Acquired and congenital hypothyroidism and myxedema can also cause macroglossia, with an approximate prevalence of 12-25% at the time of diagnosis 2.
• Transient neonatal diabetes mellitus, acromegaly, and amyloidosis are also associated with macroglossia, with varying prevalence rates 2.
• Beckwith-Wiedemann syndrome is a rare congenital disease that often presents with macroglossia, omphalocele, and visceromegaly 5, 6.

Treatment and Management

• Surgical excision remains the mainstay of management for macroglossia in BWS, with various techniques described, including the use of the Ultrasonic Dissector (Harmonic Scalpel) 4.
• Treatment of macroglossia is controversial due to the absence of objective clinical criteria, but surgical reduction of the tongue can improve nutrition, speech function, and the development of the orofacial system 6.