Macroglossia refers to an enlarged tongue compared to other organs in the mouth. Macroglossia causes include more tissue on tongue linked to genetic disorders.

Macroglossia

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Syed Intisar Hussain

Overview

Macroglossia refers to the enlargement of the tongue. It is a rare condition that occurs more commonly in children than adults. The size of the tongue is larger than other parts of the mouth. Macroglossia usually occurs as a secondary disorder to another underlying condition that may be congenital (present from birth) or acquired<a href="#accordion">[1]</a>.&nbsp;&nbsp; 
&nbsp;

Macroglossia has been around for centuries with the very first reported case being from around 1550 BC<a href="#accordion">[2]</a>. Macroglossia is often observed in association with other syndromes, mostly genetic. The diagnosis of macroglossia is a challenge in itself. It requires a thorough examination of all the tests carried out, as well as the medical history of the patient. Most cases of macroglossia are managed easily, but there may be instances where surgery is required<a href="#accordion">[3]</a>.

Macroglossia is found in most cases of Beckwith-Wiedemann syndrome, a disease with a prevalence of at least 1 out of 17,000 births<a href="#accordion">[1]</a>. Beckwith-Wiedemann syndrome is an overgrowth disorder recognized at birth, with infants being born with macrosomia i.e., larger than normal size tongues<a href="#accordion">[4]</a>. However, the disease is also associated with multiple genetic disorders. So much so that despite it being considered &lsquo;rare&rsquo;, a study done on macroglossia uncovered that it was one of the most common diagnoses amongst the young population i.e., a prevalence of around 24%<a href="#accordion">[5]</a>. 
&nbsp;

There are two main types of macroglossia:

&nbsp;

<ul>
	<li>
	<h5>True Macroglossia</h5>
	</li>
</ul>

This type of macroglossia refers to an enlargement of the tongue caused by abnormalities within the tongue, including muscular hypertrophy and vascular malformation<a href="#accordion">[2]</a>. There is an underlying cause behind the enlargement, usually a congenital disorder.

&nbsp;

<ul>
	<li>
	<h5>Pseudomacroglossia</h5>
	</li>
</ul>

​​​​​​​Also known as relative macroglossia, this occurs when the anatomy of a normal tongue makes it seem like the person has macroglossia. This basically means that the person naturally has a large tongue compared to adjacent anatomical structures in the mouth<a href="#accordion">[6]</a>. 
&nbsp;

Signs And Symptoms

While the biggest indication of the issue is the abnormal enlargement of the tongue, there may be other accompanying symptoms, like:

<ul>
	<li>Drooling</li>
	<li>Trouble speaking</li>
	<li>Snoring or low-pitched breathing</li>
	<li>Noisy or high-pitched breathing</li>
	<li>Dysphagia (difficulty eating or drinking)</li>
	<li>Tongue sticking out of the mouth</li>
	<li>Frequent tongue injuries&nbsp;</li>
</ul>

<div>&nbsp;</div>

Causes

While there may be multiple reasons behind macroglossia, the most common reason is congenital disorders. Macroglossia present at birth may be due to:

<ul>
	<li><a href="https://www.merisehat.pk/disease/down-syndrome" target="_blank">Down syndrome</a></li>
	<li>Beckwith Wiedemann syndrome</li>
	<li>Hunter syndrome</li>
	<li>Hurler syndrome</li>
	<li>Crouzon syndrome</li>
	<li>Apert syndrome</li>
	<li>Robinow syndrome</li>
</ul>

&nbsp;

Congenital muscular dystrophy is also indicated by macroglossia. CMD disorders are characterized by muscle weakness and low muscle tone i.e., hypotonia. CMD disorders also often include the overgrowth of leg muscles, delayed motor development, problem breathing, and weakness in arm muscles<a href="#accordion">[7]</a>.

&nbsp;

Other causes of macroglossia may include:

<ul>
	<li>Acromegaly - Overproduction of growth hormones</li>
	<li>Amyloidosis -&nbsp;Rare inherited or acquired disease where the protein amyloid builds up in the person&rsquo;s organs leading to organ damage</li>
	<li>Hypothyroidism - Underactive thyroid</li>
	<li>Hemangioma - Non-cancerous tumor of blood vessels</li>
	<li>Physical Trauma</li>
	<li>Other Inflammatory Conditions</li>
</ul>

​​​​​​​

Diagnosis

The differential diagnosis of macroglossia is very simple yet complicated. The size of the tongue is typically noticed during a physical examination of the patient. The physical examination also involves looking for any other areas that may display the same type of symptoms i.e., enlargement or swelling of the organ. This is then followed by a deep dive into the patient&rsquo;s medical and family history, especially in infants. Blood tests are ordered including thyroid function tests and eventually; imaging tests like a CT scan or an MRI may also be ordered<a href="#accordion">[7]</a>. 
&nbsp;

Treatment

There have been instances where kids have simply outgrown their tongue, but the main target to treat macroglossia is to first identify what is causing it and then treat the underlying problem. This is then followed by the administration of corticosteroids to reduce the swelling, orthodontic treatment, and ultimately, for very rare but severe cases, surgery is required to reduce the size of the tongue<a href="#accordion">[8]</a>.&nbsp; 
&nbsp;

Untreated macroglossia can cause multiple issues, including:

<ul>
	<li>Disfigured jaw&nbsp;</li>
	<li>Speech difficulty&nbsp;</li>
	<li>Misaligned teeth spacing</li>
	<li>Difficulty breathing</li>
	<li>Airway obstruction</li>
	<li>Dry mouth</li>
	<li>Recurrent upper respiratory tract infection</li>
	<li>Drooling 
	&nbsp;</li>
</ul>

Due to the nature of the disease being linked to other congenital or acquired syndromes, there are no risk factors that increase the chances of getting macroglossia, apart from genetics. 
&nbsp;

It is believed that macroglossia now may be linked to late-onset Pompe disease or LOPD. The European Journal of Neurology published a study that proposed that LOPD should be a part of the clinical diagnosis and special attention should be paid to LOPD patients, especially with respect to their possible impairment of speech<a href="#accordion">[9]</a>.&nbsp; 
&nbsp;

Key Points

<ul><li>Macroglossia is defined as an enlargement of the tongue. It typically occurs secondary to an underlying condition that may be congenital or acquired&nbsp;</li><li>Macroglossia can present with drooling, trouble speaking, difficulty eating or swallowing, snoring, or noisy breathing</li><li>Congenital disorders such as Down syndrome, Beckwith Wiedemann syndrome, Hunter syndrome and Apert syndrome are commonly associated with macroglossia. Moreover, <a href="https://www.merisehat.pk/disease/hypothyroidism" target="_blank">hypothyroidism</a>, acromegaly, and amyloidosis may also cause macroglossia&nbsp;</li><li>The main target to treat macroglossia is to first identify what is causing it and then treat the underlying problem. Doctors may also administer corticosteroids to reduce the swelling, orthodontic treatment and ultimately, for very rare but severe cases, surgery is required to reduce the size of the tongue</li></ul><div> </div>

[1] Macroglossia. NORD (National Organization for Rare Disorders).

[2] Neil Gildener-Leapman MD. Macroglossia. Practice Essentials, History of the Procedure, Epidemiology.

[3] Kutti Sridharan G, Rokkam VR. Macroglossia. [Updated 2022 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-.

[4] Beckwith-Wiedemann Syndrome: Medlineplus genetics. MedlinePlus.

[5] Nikolaos Topouzelis, Christos Iliopoulos, Olga Elpis Kolokitha, Macroglossia, International Dental Journal, Volume 61, Issue 2, 2011, Pages 63-69, ISSN 0020-6539 https://doi.org/10.1111/j.1875-595X.2011.00015.x.

[6] Macroglossia. DermNet.

[7] Nunez K. Big tongue (Macroglossia) symptoms, causes, and treatment. Healthline.

[8] Macroglossia: Definition, causes &amp; treatment. Cleveland Clinic.

[9] Dupé C, Lefeuvre C, Solé G, et al. Macroglossia: a potentially severe complication of late-onset Pompe disease. Eur J Neurol. Published online March 18, 2022. doi:10.1111/ene.15330