What Causes Macroglossia?

Patient Presentation
A 3-year-old male with Down syndrome came to clinic for a pre-surgical evaluation for placement of pressure-equalizing tubes and tonsillectomy and adenoidectomy.
The child had had 6 episodes of acute supprative otitis media over a 9 month period and had other episodes before this time. He had no recent illnesses other the last otitis media episode 2 weeks previously. The past medical history revealed a child who was diagnosed with Down syndrome at birth. A neck radiograph and echocardiogram were normal. Thyroid testing and complete blood counts had been normal 3 months previously. He had an orchiopexy at age 12 months and had no problems with anesthesia. He had a history of very loud snoring associated with upper respiratory infections and the parents reported mouth breathing often at other times. The family history showed no problems with anesthesia or bleeding in the family.

The pertinent physical exam showed an interactive male with normal growth parameters when plotted on a Down syndrome growth chart. His vital signs were also normal. HEENT revealed Down facies, small palate with enlarged tonsils (size III) and a relatively large tongue. He had normal dentitia and no palpable masses in the mouth. Bilateral tympanic membranes had scaring and an air-fluid level with pus approximately 1/2 way up the tympanic membranes. Neck was supple with no thyromegaly or masses other than shoddy anterior cervical adenopathy. Cardiac, lung, and abdominal examinations were normal. Neurologically there was generalized hypotonia.

The diagnosis of a child with Down syndrome and chronic supprative otitis media was confirmed. There were no obvious contraindications to general anesthesia at that time. The resident physician staffing the patient noted the relatively enlarged tongue, and asked the attending physician about potential causes. Together they came up with Down syndrome, Beckwith-Wiedemann syndrome, hypothyroidism, diabetes, trauma, masses, hypotonia and a relatively small palate/airway as causes. They discussed that this child had a relatively small mouth/airway, large tonsils and hypotonia in addition to having Down syndrome. All of these probably contributed to the relatively large tongue. The patient most likely did not have hypothyroidism as a cause because of the previous negative testing. The two physicians later in the day did a brief PubMed search and found an article with an expanded differential diagnosis for macroglossia.

Discussion
Children with Down syndrome have a number of potential medical problems that need to be screened for and current recommendations can be found from the American Academy of Pediatrics (see To Learn More below). These include congenital cardiac anomalies, atlanto-axial instability, hypothyroidism, and leukemia and its variants. Additionally, children with Down syndrome often have chronic otitis media and airway abnormalities because of smaller airways and hypotonia. Dental abnormalities are also common.

Learning Point
Macroglossia is not a common problem but the differential diagnosis is broad. Often macroglossia is due to a genetic abnormality or relative enlargement due to adjacent structure size or impingment upon the tongue. The differential diagnosis of macroglossia includes:

True macroglossia

  • Congenital

    • Genetic
      • Autosomal dominant inheritance
      • Beckwith-Wiedemann syndrome
      • Behmel syndrome
      • Blomstrand chondrodysplasia
      • Down syndrome
      • Gangliosidosis
      • Lipoproteinosis
      • Mucopolysaccharidoses
      • Muscle hypertrophy, idiopathic
      • Simpson-Golabi-Behmel syndrome
      • Trisomy 22
      • Zimmerman-Laband syndrome
    • Masses
      • Thyroid, lingual
      • Hemangioma
      • Lymphangioma
  • Acquired

    • Infectious

      • Actinomyces sp. (Ludwig angina)

      • Amebic dysentery
      • Candidiasis
      • Pneumonia
      • Rheumatic fever
      • Smallpox
      • Syphilis
      • Typhoid
      • Tuberculosis
    • Metabolic/endocrine

      • Hypothyroidism

      • Diabetes including transient neonatal diabetes mellitus
    • Neoplastic

      • Carcinoma

      • Hemangioma
      • Lymphangioma
      • Plasmacytoma
    • Nutrition

      • Scurvy

      • Pellagra
    • Other

      • Amyloidosis

      • Acromegaly
      • Giant cell arteritis
      • Iatrogenic
      • Neurofibromatosis
      • Pemphigus vulgaris
      • Sarcoidosis
      • Uremia
    • Trauma

      • Biting

      • Hemorrhage
      • Intubation
      • Radiation therapy
      • Surgery
    • Neoplastic

      • Carcinoma

      • Hemangioma
      • Lymphangioma
      • Plasmacytoma

Pseudomacroglossia – causes abnormal positioning and therefore the tongue appears large

  • Habitual posturing
  • Enlarged tonsils and/or adenoids
  • Low palate with decreased oral cavity volume
  • Abnormal maxillary or mandibular dental arches
  • Severe mandibular deficiency
  • Hypotonia
  • Neoplasms causing displacement

Questions for Further Discussion
1. What potential airway problems would a child undergoing anesthesia have?
2. What dental problems are associated with macroglossia?
3. What surgical treatments are available for macroglossia?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Mouth Disorders and Down syndrome.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

American Academy of Pediatrics Policy Statement. Health Supervision for Children with Down syndrome. Pediatrics 2001;107:442-449. Available from the Internet at: http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442 (cited 7/9/09).

Thrasher III RD, Allen GC. Macroglossia. eMedicine.
Available from the Internet at http://emedicine.medscape.com/article/873658-overview (rev. 11/2007, cited 7/9/09).

Johns Hopkins University. Online Mendelian Inheritance in Man.
Available from the Internet at http://www.ncbi.nlm.nih.gov/omim/ (cited 7/9/09).

ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    6. Information technology to support patient care decisions and patient education is used.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    12. Evidence from scientific studies related to the patients’ health problems is located, appraised and assimilated.
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.
    15. Information technology to manage information, access on-line medical information and support the healthcare professional’s own education is used.
    16. Learning of students and other health care professionals is facilitated.

  • Interpersonal and Communication Skills
    19. The health professional works effectively with others as a member or leader of a health care team or other professional group.

    Author
    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital