Juvenile Polyposis of Infancy Presenting as Protein-Losing Enteropathy
Bibliographic record
Abstract
CASE REPORT A 20-month-old female was admitted with rectal bleeding and rectal prolapse with extrusion of a polyp. Her medical history was relevant for chronic diarrhea, abdominal distension since birth, delayed neuropsychomotor development, and refractory iron deficiency anemia. Physical examination revealed macrocephaly, skin pallor, severe malnutrition with significant muscle atrophy, and generalized edema. Laboratory workup demonstrated severe anemia and hypoalbuminemia. Subsequent abdominal scintigraphy with Tc99m marked albumin revealed intestinal protein loss to some degree in the small bowel and severe colonic loss. Endoscopic examination showed diffuse severe polyposis throughout the colon (Figure 1). The patient underwent total colectomy with the creation of an ileostomy which significantly improved the protein-losing enteropathy and allowed for nutritional rehabilitation (Figure 2).Figure 1.: Severe diffuse colonic polyposis (A and B) ascending colon, (C) transverse colon, and (D) descending/sigmoid.Figure 2.: Macroscopic view of the colon after total colectomy.Juvenile polyposis syndrome (JPS) is a rare autosomal dominant condition with an estimated prevalence of 1/100,000.1 Juvenile polyposis of infancy is considered the most severe form of JPS. This generalized, early-onset form of JPS manifests with diarrhea, anemia, gastrointestinal bleeding, rectal prolapse, intussusception, and protein-losing enteropathy—as illustrated in this case.1,2 Depending on the magnitude of protein loss, colectomy may be required to treat protein-losing enteropathy. The use of sirolimus has also been reported as a management strategy for juvenile polyposis of infancy.3 DISCLOSURES Author contributions: NS Sandy and MA Bellomo-Brandao wrote the manuscript. SR Cardoso and MACP Cavalaro-Silva provided images and revised the manuscript for intellectual content. MA Bellomo-Brandao is the article guarantor. Previous presentation: This case was presented at the 17th Brazilian Congress of Pediatric Gastroenterology; September 29-October 1, 2018; Porto de Galinhas, Brazil. Informed consent could not be obtained from the patient despite several attempts. All identifying information has been removed from this case report to protect patient privacy.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.003 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.005 | 0.003 |
| Insufficient payload (model declined to judge) | 0.002 | 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".