The Course of Dyskeratosis Congenita Masked by Crohn’s Disease in a Primary School-Age Child: Case Report
Bibliographic record
Abstract
Background. Dyskeratosis congenita (DC) is an extremely rare genetically determined syndrome associated with the formation of bone marrow depression and clinically manifested by abnormal pigmentation of the skin, onychodystrophy, cobble-stone tongue, damage to the gastrointestinal tract, lungs, etc. Pathology may occur under the guise of other, more common diseases, which leads to late verification of the diagnosis and affects the prognosis. Case report. The boy D., aged 7 years, was hospitalized with complaints of dysphagia, a change in the shape of nails, ulcerative lesions of the tongue, insufficient weight gain, thin stool. Laboratory: decrease in hemoglobin, pancytopenia, low concentration of IgG in blood serum. According to esophagogastroduodenoscopy— esophageal stenosis. Crohn’s disease was suspected, but the condition worsened against the background of anti-TNF therapy. According to the results of full-exome sequencing, a pathogenic variant c.1058C>T (chrX:154001427C>T; NM_001363.3; p.A353V) was detected in the DKC1 gene in a hemizygous state, on the basis of which DC was confirmed. Conclusion. Practitioners should be wary of DC, since its manifestations can often mimic other, more common pathological conditions, in particular inflammatory bowel diseases. The correct interpretation of the combination of clinical, laboratory and instrumental changes can help to get closer to the correct diagnosis even before receiving the results of a molecular genetic study and determine therapeutic tactics.
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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) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.005 | 0.003 |
| Insufficient payload (model declined to judge) | 0.003 | 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".