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Macroglossia means an enlarged tongue. It may be absolute (greater than the 95th centile) or relative (enlarged compared with oral cavity).
Recognized associations include:
- chromosomal anomalies
- tends to be a relative macroglossia
- may also have intermittent "tongue throbbing"
- Down syndrome
- congenital hypothyroidism 9
- Beckwith-Wiedemann syndrome 3
- Lhermitte-Duclos disease 12
- mucopolysaccharidoses 2
- Urbach-Wiethe disease 10
In rare situations macroglossia can present in an adult, with associations including:
- acromegaly 11
- lymphoma of the tongue 6
- amyloidosis of the tongue
- hypothyroidism 11
Antenatally, macroglossia is best appreciated on a midline sagittal facial view as a protrusion between the upper and lower lips. To satisfy the diagnosis, the tongue should remain outside the mouth regardless of swallowing movements of lips.
If swallowing is impaired, there may be also evidence of polyhydramnios.
Clinically the tongue may appear relatively large with a small oral cavity or a floor of mouth, e.g. micrognathia.
The tongue may be pushed forward if there is a lesion posteriorly such as:
- 1. Guimaraes CV, Donnelly LF, Shott SR et-al. Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea. Pediatr Radiol. 2008;38 (10): 1062-7. doi:10.1007/s00247-008-0941-7 - Pubmed citation
- 2. Donnelly LF, Jones BV, Strife JL. Imaging of pediatric tongue abnormalities. AJR Am J Roentgenol. 2000;175 (2): 489-93. AJR Am J Roentgenol (full text) - Pubmed citation
- 3. Cobellis G, Iannoto P, Stabile M et-al. Prenatal ultrasound diagnosis of macroglossia in the Wiedemann-Beckwith syndrome. Prenat. Diagn. 1988;8 (1): 79-81. - Pubmed citation
- 4. Merz E, Bahlmann F. Ultrasound in obstetrics and gynecology. Thieme Medical Publishers. (2005) ISBN:1588901475. Read it at Google Books - Find it at Amazon
- 5. Guimarães Mdo C, De farias SM, Costa AM et-al. Maroteaux-Lamy syndrome: orofacial features after treatment by bone marrow transplant. Oral Health Prev Dent. 2010;8 (2): 139-42. - Pubmed citation
- 6. Inchingolo F, Tatullo M, Abenavoli FM et-al. Non-Hodgkin lymphoma affecting the tongue: unusual intra-oral location. Head Neck Oncol. 2011;3 : 1. doi:10.1186/1758-3284-3-1 - Free text at pubmed - Pubmed citation
- 7. Cowan AJ, Skinner M, Berk JL et-al. Macroglossia - not always AL amyloidosis. 2011;doi:10.3109/13506129.2011.560217 - Pubmed citation
- 8. Felea I, Fodor D, Schiotis R et-al. Ultrasound findings in AL musculoskeletal amyloidosis. Med Ultrason. 2011;13 (1): 76-9. Med Ultrason (link) - Pubmed citation
- 9. Rastogi MV, Lafranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis. 2010;5 : 17. doi:10.1186/1750-1172-5-17 - Free text at pubmed - Pubmed citation
- 10. Staut CC, Naidich TP. Urbach-Wiethe disease (Lipoid proteinosis). Pediatric neurosurgery. 28 (4): 212-4. Pubmed
- 11. Wittmann AL. Macroglossia in acromegaly and hypothyroidism. Virchows Archiv. A, Pathological anatomy and histology. 373 (4): 353-60. Pubmed
- 12. Pandey S, Sarma N. Lhermitte-Duclos Disease: A Rare Cause of Cerebellar Ataxia. Asian journal of neurosurgery. 12 (4): 705-706. doi:10.4103/ajns.AJNS_190_14 - Pubmed