Macroglossia

Macroglossia means an enlarged tongue. It may be absolute (greater than the 95^th centile) or relative (enlarged compared with oral cavity).

Pathology

Associations

Recognized associations include:

• chromosomal anomalies
  • Down syndrome
    • tends to be a relative macroglossia
    • may also have intermittent "tongue throbbing"
• congenital hypothyroidism ⁹
• Beckwith-Wiedemann syndrome ³
• Lhermitte-Duclos disease ¹²
• mucopolysaccharidoses ²
  • type IH: Hurler syndrome 
  • type VI: Maroteaux-Lamy syndrome ⁵
• 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
  • AL amyloidosis ^7,8
  • ATTR amyloidosis ⁷
• hypothyroidism ¹¹

Radiographic features

Antenatal ultrasound

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.

Differential diagnosis

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:

• intrinsic mass involving the tongue, e.g lymphangioma
• epignathus
• intra-oral duplcation cyst ²