Macroglossia And Feeding Difficulties In Infants

Overview

Macroglossia is a condition characterised by the presence of an abnormally large tongue. People with macroglossia have tongues that are disproportionately larger compared to the size of their oral cavity. It is most commonly seen in children and is usually associated with underlying genetic conditions.¹ 

Macroglossia can be classified into true macroglossia and relative macroglossia, based on the size of the tongue and other structures in the mouth.² Both true and relative macroglossia can be further divided into congenital and acquired disorders. True macroglossia involves an actual enlargement of the tongue caused by an underlying disease or condition, which is often confirmed by histopathological findings. On the other hand, relative macroglossia is when the tongue appears abnormally large in comparison with the other components of the oral cavity.² 

What causes macroglossia in infants?

Genetic and congenital factors

• Beckwith-Wiedemann syndrome – a genetic disorder that can cause abnormal and asymmetric growth, enlarged organs and macroglossia¹
• Down’s syndrome – a genetic condition that affects physical and cognitive development, often resulting in a larger tongue¹
• Mucopolysaccharidoses – a group of disorders that lead to excessive accumulation of sugar in the body's cells and tissues. Some examples are Hurler and Hunter syndrome²
• Other genetic disorders – several other congenital conditions can cause macroglossia such as Robinow syndrome, and Maroteux-Lamy syndrome among many others²

Acquired causes

These are the conditions that develop after birth.

• Hypothyroidism – a condition where the thyroid gland does not produce enough hormones, which slows down the metabolism. A common cause of macroglossia in infants is hypothyroidism² 
• Infections –certain infections can cause swelling and enlargement of the tongue²
• Tumours and cysts –abnormal growths in the tongue or surrounding areas can cause the tongue to enlarge, as seen in conditions like lymphangioma, hemangioma²
• Acromegaly –a rare hormonal disorder that results from excess growth hormone, often leading to enlarged hands, legs, jaw, including the tongue³

Symptoms and diagnosis

Enlarged, protruding, tongue

One of the most apparent symptoms of macroglossia is the visibly enlarged tongue. This can be observed when the tongue protrudes from the mouth or appears disproportionately large in comparison to the mouth.¹

Feeding difficulties

Infants with macroglossia often experience significant challenges with feeding. The enlarged tongue can interfere with the ability to latch onto the breast or bottle properly, making it difficult to create the necessary suction for effective feeding. This can lead to inadequate nutrition and poor weight gain.²    

Speech problems

They may also have speech problems and crooked teeth or abnormal teeth position as they get older. The tip of the tongue may show signs of tissue death, and there might be sores all over the tongue.²

Diagnosis

Physical examination 

The initial step in diagnosing macroglossia involves a thorough physical examination by a healthcare provider. The doctor will visually inspect the tongue and oral cavity, assess the size and mobility of the tongue, and look for any signs of airway obstruction and feeding or speaking difficulty.

Imaging studies

To gain a better understanding of the tongue's size and its impact on surrounding structures, imaging studies such as CT or MRI scans may be performed. These techniques provide detailed images of the tongue and help in evaluating the extent of the enlargement and its effect on adjacent tissues.¹

Genetic testing

Macroglossia can be associated with genetic conditions such as Beckwith-Wiedemann syndrome or Down syndrome, hence genetic testing may be recommended. This can help identify any underlying genetic abnormalities contributing to the condition and guide appropriate management and treatment strategies.²

Blood tests for metabolic or hormonal imbalances

In some cases, macroglossia may be linked to metabolic or hormonal disorders. Blood tests can be conducted to check for imbalances or abnormalities that might be causing or exacerbating the tongue enlargement. These tests can include thyroid function tests, glucose levels, and other relevant metabolic or endocrine assessments.²

Impact on feeding

• An enlarged tongue can block the infant's mouth, making it hard for them to latch onto the breast or bottle properly. This can prevent them from getting proper nutrition
• The large tongue can also make it hard for the infant to breathe while feeding. This can cause them to stop feeding frequently to catch their breath ⁴
• Because feeding becomes so difficult and tiring, the infant may become quickly exhausted
• When feeding is difficult and inefficient, the infant may not get enough food, leading to poor weight gain. This can be a major concern for their growth and development
• Infants may encounter trouble closing their lips tightly, biting, moving food around in their mouth, and moving their tongue from side to side ⁴
• The large tongue can cause the infant to gag or choke more easily while feeding ⁴

Management

Medical interventions

Surgical options 

In some cases, doctors may recommend surgery to reduce the size of the tongue. This procedure, known as tongue reduction surgery, aims to decrease the bulk of the tongue to improve feeding, speech, breathing obstruction and overall oral function.²

Non-surgical options

The non-surgical approach includes using medications, orthodontic treatment and radiation therapy in cases of tumours.

Treating underlying conditions

If macroglossia is associated with an underlying medical condition like hypothyroidism (low thyroid hormone levels), treatment may involve thyroid hormone replacement therapy. By treating the underlying cause, it is possible to manage or reduce the enlargement of the tongue and alleviate associated symptoms.²

Prognosis and long-term outcomes

• Infants often experience better feeding abilities soon after intervention ²
• Enhanced feeding leads to better growth and weight gain
• Consistent monitoring and support in speech therapy as the child grows will significantly improve their overall development
• Addressing any dental issues and the need for orthodontic treatment will help ensure proper oral function and alignment of teeth
• The prognosis is ultimately determined by the condition's severity, the underlying cause, and how successful the treatment is²

FAQs

How does macroglossia affect feeding in infants?

A larger tongue can make it hard for infants to latch onto the breast or bottle, leading to difficulties in sucking, swallowing, and sometimes breathing while feeding.

What are the treatment options for macroglossia?

Treatment can include medical interventions like surgery to reduce the size of the tongue or treating underlying conditions. Non-surgical approaches involve specialised feeding techniques and equipment, as well as support from feeding and speech therapists.

Can macroglossia affect speech development?

Yes, macroglossia can impact speech development. Early intervention with speech therapy can help improve speech outcomes as the child grows.

What are the long-term outcomes for infants with macroglossia?

Long-term outcomes depend on the severity of the condition and the success of treatments. With proper management, many children can have improved feeding, growth, and speech development. Regular monitoring is important to address any ongoing issues.

Is macroglossia a common condition?

Macroglossia is relatively rare. It is more commonly associated with certain genetic syndromes and conditions, making it important to identify and address underlying causes.

What should parents do if they suspect their child has macroglossia?

Parents should consult a paediatrician if they notice signs of an enlarged tongue or feeding difficulties in their infant.

Can macroglossia be cured?

The outlook for curing macroglossia depends on its cause. While some underlying conditions can be treated, others may require ongoing management. Surgery and other treatments can significantly improve symptoms and quality of life for affected infants.

Summary

Macroglossia is a condition characterised by an abnormally large tongue. People can be affected by this condition at any age, and it can be caused by genetic factors, such as Beckwith-Wiedemann syndrome or Down’s syndrome, or by acquired conditions like hypothyroidism, infections, or tumours. In infants, congenital and genetic causes are more common. Macroglossia in infants can determine feeding difficulties and impact the overall development of the child.  

Diagnosis of macroglossia is made by physical exams, imaging tests, and sometimes genetic testing. Doctors may choose from different treatment options that vary based on the underlying cause and can include surgery, specialised feeding techniques, and support from therapists.

Macroglossia can affect speech development and may require long-term management. With early intervention and proper care, many children experience improvements in feeding, growth, and speech. 

Parents who suspect their child has macroglossia should seek advice from a doctor for a timely diagnosis and treatment.