Clinical Reasoning: A 65-Year-Old Woman With Isolated Macroglossia as the Initial Presentation of a Rare Disease

Neurology. 2024 Dec 24;103(12):e210070. doi: 10.1212/WNL.0000000000210070. Epub 2024 Nov 19.

Abstract

Macroglossia can be seen in multiple conditions, but its evaluation becomes more challenging when approached as an isolated presenting symptom. This is a case of a 65-year-old patient with isolated progressive tongue hypertrophy of unclear etiology for 5 years. We navigate the causes of macroglossia and discuss the clinical and diagnostic procedures that helped us narrow the differential diagnoses for our patient. We emphasize searching for evidence of more systemic involvement and the use of appropriate genetic testing to change the course of the disease and avoid therapeutic delay.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Clinical Reasoning
  • Diagnosis, Differential
  • Female
  • Humans
  • Macroglossia* / etiology
  • Rare Diseases