Multifocal micronodular pneumocyte hyperplasia in a patient with undiagnosed tuberous sclerosis: next-generation sequencing of a lung biopsy reveals TSC1 mutation—a case report
Our report suggests that multifocal micronodular pneumocyte hyperplasia should be considered in the differential diagnosis of bilateral, small ground-glass nodules and molecular testing may be useful to confirm the diagnosis.
Authors
- Charles D. Burger (ORCID: https://orcid.org/0000-0002-4815-3669)
- Benjamin R. Kipp (ORCID: https://orcid.org/0000-0001-9477-0118)
- Anna Kornafeld (ORCID: https://orcid.org/0000-0001-8929-2131)
- András Khoór (ORCID: https://orcid.org/0000-0003-0371-0414)
- Ildikó Krencz (ORCID: https://orcid.org/0000-0003-3601-8723)
- Justin T. Stowell (ORCID: https://orcid.org/0000-0003-4763-7394)
Institutions
- Semmelweis University (HU)
- Jacksonville College (US)
- WinnMed (US)
- Mayo Clinic in Arizona (US)
- Mayo Clinic in Florida (US)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2025-11-21
- DOI
- https://doi.org/10.1186/s13256-025-05679-0
- Primary Topic
- Tuberous Sclerosis Complex Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00