Torticollis as an early manifestation of basilar invagination in a paediatric patient
Bibliographic record
Abstract
This case report describes the clinical journey of a male patient in early childhood with developmental delay, failure to thrive, worsening right-sided head tilt torticollis and regression of motor skills with spasticity of the lower limbs. The case was complex due to the early onset and gradually worsening symptoms, including a decline in established motor milestones. Genetic testing to investigate the delayed neurodevelopment revealed a FRA10AC1 variant that did not fully explain the patient’s phenotype. Investigations were delayed due to the coronavirus disease 2019 pandemic and other factors related to the patient. Eventually, MRI revealed basilar invagination with cord compression and cord oedema at the C1–C2 junction. Treatment included foramen magnum decompression and management of symptoms using a multidisciplinary approach. Treatment resulted in a remarkable recovery. The patient regained some motor abilities and reached the 50th weight percentile.
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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 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.003 | 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".