Optic Nerve Enlargement Associated with Globoid Cell Leukodystrophy
Bibliographic record
Abstract
A six-month-old female developed marked irritability, multifocal myoclonic jerks and episodic opisthotonus.Developmental milestones and growth (height and weight) plateaued at three months of age, despite adequate oral intake.Pregnancy, birth and family history were non-contributory.Neurological examination revealed a very irritable baby with poor visual contact and tracking.Head circumference was in the 7th percentile and height and weight were less than the 2nd percentile for age and gender.Funduscopic examination was unremarkable.Appendicular and truncal tone were increased, deep tendon reflexes were difficult to elicit and plantar responses were downgoing.Hands were tightly fisted.There was no significant dysmorphism, skin lesion or organomegaly.Complete blood count, liver function tests, serum electrolytes, ammonia, lactate, very long chain fatty acids, amino acids and urine organic acids were normal.Cerebrospinal fluid analysis revealed a markedly elevated protein content of 4 g/L with normal glucose, lactate, amino acids, nucleated and red cell count.Electroencephalogram demonstrated relatively normal background rhythms with multifocal independent epileptiform discharges maximal bi-centrally.Sequential axial images from a non-contrast computed tomography study of the brain (Figure 1), demonstrated moderately severe generalized cerebral atrophy.Abnormal hyperdensities in the thalami (large white arrows) were observed along with patchy hypodensities in the white matter of the centrum semiovale (small white arrows).On sequential axial FLAIR images of the brain (Figure 2), abnormal T2 hyperintensity was seen within the deep white matter of both hemispheres, sparing the subcortical U-fibres.The abnormal signal extended into the internal capsule, ventral pons and corticospinal tracts to the level of the medulla (small black arrows).Patchy abnormal increased signal was also seen in the dentate nuclei of both cerebellar hemispheres.A striking finding was marked enlargement of the prechiasmatic and intra-orbital
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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".