S1714 Cronkhite-Canada Syndrome: A Case Report in a Young Female
Bibliographic record
Abstract
INTRODUCTION: Cronkhite Canada Syndrome (CCS) is a rare polyposis syndrome for which the cause remains unknown. Because the disease is so rare (1 in 1 million), no standard of care exists. The disease is most prevalent in males and has an average age of onset at 60 years of age. The case presented is unique as the patient is female and diagnosed at a younger age (38). CASE DESCRIPTION/METHODS: A 38-year-old woman of Asian (Laotian) descent presented in the gastroenterology clinic with fatigue, dizziness, alopecia, dysgeusia, and weight loss. Physical exam revealed onychodystrophy and hyperpigmentation of her face and hands. Laboratory testing confirmed iron deficiency anemia with hypoproteinemia and hypoalbuminemia. Anti-gliadin antibodies were negative. A computed tomography scan of her abdomen revealed no significant abnormalities. Endoscopy revealed dozens of erythematous pedunculated polyps in the stomach, duodenum, and ileum while the colon had close to a dozen large pedunculated polyps. Pathology noted no adenomas or dysplasias. However, pathology did note edema, chronic and acute inflammation and prominent eosinophil content. A diagnosis of CCS was made. In order to assess for intestinal microbial changes in the patient, a stool sample was obtained to perform total 16S sequencing of the stool flora. The 16S data is being compared to healthy sex and aged-matched controls at the species level. Additionally, human intestinal organoids were generated from her stomach, duodenum, ileum, and colon biopsies using published methods. To our knowledge, this is the first time that intestinal organoids have been made from a CCS patient. The CCS organoids grow faster, are larger, and have unique morphologies compared to organoids from other healthy donors. Cell type analysis also reveals an increased number of ChgA positive enteroendocrine cells in the colon and ileum. DISCUSSION: Despite over 50 years of CCS cases, the etiopathogenesis and optimal treatment for CCS remains unknown. Currently the patient is maintained on azathioprine (dosing is 50 mg daily) and anti-histamines. Utilization of ex vivo organoid models will be an important tool for not only understanding more about the disease, but also as a way to advance precision medicine and evaluate potential therapies for this rare disease.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.004 | 0.002 |
| Science and technology studies | 0.003 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.005 | 0.002 |
| Insufficient payload (model declined to judge) | 0.004 | 0.001 |
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".