Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia
Author Information
Author(s): Misiakos Evangelos P., Siama Elli, Schizas Dimitrios, Petropoulos Constantinos, Zavras Nikos, Economopoulos Nikos, Charalabopoulos Alexandros, Macheras Anastasios
Primary Institution: University of Athens School of Medicine, Attikon University Hospital, Haidari, Athens, Greece
Hypothesis
Is there a possible association between Friedreich's ataxia and neoplastic development?
Conclusion
This case suggests that patients with Friedreich's ataxia may develop neoplasms, such as uterine leiomyomas, at an early age.
Supporting Evidence
- Friedreich's ataxia is associated with low frataxin levels and a high rate of mutations in fibroblasts.
- The patient presented with acute intestinal obstruction due to a huge uterine tumor.
- The tumor was histologically confirmed to be a leiomyoma with increased mitotic activity.
- This is the first report of a leiomyoma originating from the genital system in a female patient with Friedreich's ataxia.
Takeaway
A woman with a rare disease called Friedreich's ataxia had a big tumor in her uterus, which is unusual for someone her age. This shows that people with this disease might get tumors more often.
Methodology
The patient underwent an abdominal CT scan and an emergency exploratory laparotomy for tumor excision.
Limitations
The study is based on a single case, making it difficult to generalize the findings.
Participant Demographics
39-year-old white female with Friedreich's ataxia.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website