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Tongue Root Cyst as a Manifestation of the Variant m.3243A>G

Josef Finsterer1

  • 1Neurology, Krankenanstalt Rudolfstiftung, Vienna, AUT.

Cureus
|December 2, 2021
PubMed

Insights

Tongue root cysts, previously unreported in mitochondrial disorders (MIDs), may be linked to the m.3243A>G variant. This finding expands the known manifestations of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Area of Science:

  • Neurology
  • Genetics
  • Medical Imaging

Background:

  • Mitochondrial disorders (MIDs) are associated with increased cyst formation in various organs.
  • Tongue root cysts have not been previously documented as a manifestation of MIDs.
  • The m.3243A>G variant is a common cause of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Observation:

  • A 56-year-old male with MELAS was incidentally found to have an asymptomatic, 1 cm pre-epiglottic tongue root cyst.
  • The cyst, detected via ultrasound and confirmed by MRI, showed protein-rich content and remained unchanged over six years.
  • The patient exhibited mild cerebellar speech but no significant dysphagia or dysarthria.

Findings:

  • The presence of a tongue root cyst in a MELAS patient suggests a potential, previously unrecognized association.
  • Branchiogenic cyst was excluded due to the cyst's atypical location.
  • The findings propose that tongue root cysts could be a manifestation of the m.3243A>G variant.

Implications:

  • This case expands the spectrum of clinical manifestations associated with MIDs and the m.3243A>G variant.
  • It highlights the importance of considering MIDs in the differential diagnosis of unexplained cysts, even in atypical locations.
  • Further research is warranted to confirm this association and elucidate the underlying pathophysiology.
Keywords:
cyst formationm.3243a>gmelasmtdnaoxidative phosphorylation

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