Clinical Reasoning: A 65-Year-Old Woman With Isolated Macroglossia as the Initial Presentation of a Rare Disease
Year: 2024
Type: article
Study design: Case Report
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.
Source: Neurology
Institution: University of Chicago
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4404517735