Macroglossia: Causes, Symptoms, Treatment, Complications

If your baby is born with a tongue that is much larger than the size of his mouth, or as he grows older his tongue becomes larger than it should be, be alert! It could be that your little one is suffering frommacroglossia,Parents.

Come on, check out the explanation about the disease ‘big tongue’ or ‘giant tongue’ through the article below.

What is Macroglossia?

Launching the pageMedline Plus, macroglossia is a disorder in which the size of the tongue is larger than normal. ExplainedCleveland Clinic, this condition is sometimes also called giant tongue or enlarged tongue.

This is a rare condition that usually affects more children than adults. Most people are born with macroglossia usually because they also have another condition, such as Beckwith-Wiedemann syndrome or Down syndrome. It can also develop as a result of some forms of cancer or severe infections.

It’s hard to say how many people havemacroglossia. Typically, macroglossia is a symptom of many different medical conditions, and not everyone who has these conditions develops macroglossia.

Signs and Symptoms of Macroglossia

If you havemacroglossia, here are the most common signs and symptoms according to the Cleveland Clinic:

• The size of the tongue is not proportional to the size of the mouth
• Noisy breath sounds, high-pitched breathing (stridor)
• Snoring or low-pitched breathing (stertor)
• Difficulty eating or drinking (dysphagia)
• Drooling
• Difficulty speaking
• The tongue may protrude from the mouth.
• You may also have difficulty eating.
• Abnormal development of the jaw and teeth, resulting in misaligned or protruding teeth
• Ulceration and dead tissue on the tip of the tongue may be other symptoms of the disorder.

Causes of Macroglossia

Medline Plus explains,macroglossiamost often caused by an increase in the amount of tissue in the tongue, rather than by growths such as tumors.

Added from pageRare Diseases, in rare cases,macroglossiacan also occur due to congenital abnormalities that are not associated with other causes, either congenital or acquired. In such cases, the disorder is transmitted genetically as an autosomal dominant trait that can be inherited from one parent, or it can be the result of a new mutation (change in the gene) in the affected individual.

The risk of passing the abnormal gene from parent to child is 50 percent in each pregnancy, regardless of the sex of the resulting child.

1. Genetics

• Beckwith-Wiedemann syndrome. This is a growth disorder that causes large body size, large organs and can increase a child’s risk of developing certain childhood cancers. About 90 percent of children with Beckwith-Wiedemann syndrome also have macroglossia.
• Down syndrome: An extra copy of chromosome 21, which causes problems with physical, intellectual and mental functioning.
• Hurler/Hunter Syndrome ormucopolysaccharidosis, a group of diseases that cause large amounts of sugar to build up in the body’s cells and tissues.

2. Conditions Obtained

Acquired causes may include metabolic or endocrine conditions, such as hypothyroidism or infections, such as diphtheria. These include:

• Acromegaly, which is the accumulation of too much growth hormone in the body. As a result, people with acromegaly often have an overly large tongue, jaw, hands, and feet.
• Congenital hypothyroidism or decreased production of thyroid hormones. This is a common condition in which the thyroid does not make and release enough thyroid hormones into the bloodstream. This causes the metabolism to slow down.
• Diabetes is a condition of high blood sugar caused by the body producing too little or no insulin.
• Primary amyloidosis, a protein disorder that causes tissues and organs to not function properly. Macroglossia is the most common oral symptom of amyloidosis.
• Diphtheria, a contagious disease that can cause the tongue to swell.

3. Tumor

Macroglossiacan be a symptom of several benign and cancerous tumors, including:

• Lymphangioma, a benign tumor that develops in the lymphatic system and causes fluid-filled cysts in the mucous membranes of the mouth.
• Hemangioma, a benign tumor that grows from blood vessels.
• Lymphoma, this cancer affects the lymphatic system.

Diagnosis of Macroglossia

The doctor will perform a combination of tests to diagnose macroglossia. These include:

• Physical examination, namely by checking the size of the child’s tongue in proportion to the rest of his mouth. He will also look for lesions, swelling, or discoloration.
• Medical history. To narrow down what is causing your child’s tongue to enlarge, plus ask about the symptoms your child is experiencing.
• Blood tests. Depending on your child’s physical exam and medical history, your doctor may recommend certain blood tests, such as a thyroid function test.
• Computed Tomography (CT Scan). A CT scan uses a series of X-rays and a computer to create three-dimensional (3D) images of your child’s mouth, head, and neck.
• Magnetic Resonance Imaging (MRI), is a painless test that uses a large magnet, radio waves, and a computer to produce very clear images of organs and structures inside a child’s body.

Frequency of Occurrence

Isolated autosomal dominant macroglossia is very rare in children. So far, only about 50 cases have been reported in the medical literature.

The prevalence in other cases depends on the underlying disorder to which macroglossia is secondary. For example, macroglossia occurs in the majority of cases of Beckwith-Wiedemann syndrome, and the prevalence of the syndrome is estimated to be 1 in 17,000 births.

Macroglossia Management

When the diagnosis results state that the child is experiencingmacroglossia, the type of treatment a doctor provides can vary greatly, depending on the underlying condition. Likewise, the treatment can range from speech therapy to surgery.

In general, caremacroglossiainvolves treating the underlying condition. Treatment options include:

1. Speech Therapy

Speech therapy is used to treat mild macroglossia. Speech therapists teach you how to control your tongue position and improve the way you speak.

2. Medicines

If the underlying cause can be treated with medication, your doctor will likely prescribe it. Some conditions that can be treated with medication include hypothyroidism, acromegaly, and tuberculosis.

3. Orthodontic Treatment

Macroglossiacan be associated with dental problems, such as misaligned teeth. If so, orthodontic treatment is needed. It can also be used after macroglossia surgery.

4. Operation

About 10 percent of casesmacroglossiarequires surgery (remodelingmouth and orthodontic procedures) –about 10 percent of sufferers do this. This involvesglossectomy, which is an operation to remove part of the tongue.

Surgery has several benefits for people with macroglossia, including reduced saliva, increased ability to eat, and improved speech.

In some cases in children withmacroglossia, doctors will try to ensure that their facial bones grow and their mouths have room for their tongues.

Possible Complications

If left untreated, citing fromHealthline, macroglossia can cause complications.

If a child has macroglossia at birth, this condition can affect his physical development, such as:

• Misaligned teeth
• Abnormal jaw formation
• Difficulty learning to speak

Other complications of having a large tongue can affect people of all ages, such as:

• Difficulty breathing
• Airway obstruction
• Difficulty chewing
• Pain in the temporomandibular joint
• High risk of tongue injury (due to exposure)
• Dry mouth
• Recurrent upper respiratory tract infections
• Drooling (drooling)

In severe cases, airway obstruction can prevent oxygen from reaching the brain, ultimately leading to cardiac arrest.

Prevention of Macroglossia

If macroglossia is caused by a congenital condition, it is clear that this disease cannot be prevented. Unless the cause is a symptom of an infectious disease.

Therefore, try to protect your child from infectious diseases. So far, that is the only way to keep your child away from problems.macroglossia.

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If your baby suffers frommacroglossia, focus on treatments that are appropriate for the underlying condition. Don’t hesitate to ask your pediatrician about what you can do to keep your child comfortable. Hopefully this article is useful for you.

Republished with permission from theAsianParent Indonesia