Bibliographic record
Abstract
BACKGROUND: Tuberous sclerosis has been associated with lower extremity lymphoedema in rare cases, only in females. Our objective was to increase present knowledge about this condition by describing this association of lower limb lymphoedema and tuberous sclerosis, however, in a male patient. METHODS: We report the case of a 5-year-old boy who presented with left lower limb congenital lymphoedema and was diagnosed with tuberous sclerosis 9 days after birth based on adequate clinical criteria. This patient's lymphoedema was severe and caused compartment syndrome requiring fasciotomies at 2 days after birth, numerous surgical interventions for chronic wounds and eventually necessitating several toe amputations. A biopsy confirmed benign vascular lymphatic malformation and genetic analysis confirmed the TSC2 mutation. A thorough literature review using the Medline database from 1948 to August 2013 was conducted to investigate the possible association between lower extremity lymphoedema and tuberous sclerosis. RESULTS: Our literature review confirms that the 5 reported cases of the association between lower extremity lymphoedema and tuberous sclerosis were all in female patients. Our case is the first, to our knowledge, to identify that the cause of lymphoedema is biopsy-proven benign vascular lymphatic malformation and to confirm that this association may occur in male patients as well. CONCLUSIONS: Although the true incidence is unknown, there exists a rare association between tuberous sclerosis and lower extremity lymphoedema, both in female and male patients, which may be severe and lead to compartment syndrome as well as other complications throughout development, including chronic wounds, eventually requiring amputations. A multidisciplinary team approach should be strongly considered. LEVEL OF EVIDENCE: Level V (case report).
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.003 | 0.004 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".