Clinical and Neuroimaging Findings of Cree Leukodystrophy: A Retrospective Case Series
Bibliographic record
Abstract
BACKGROUND AND PURPOSE: CLD is a rapidly progressive and invariably fatal neurodegenerative disorder. We describe clinical and neuroimaging findings in 5 infants with CLD. MATERIALS AND METHODS: Retrospective review of medical records of infants with CLD from the past 11 years at our institution was performed. Relevant clinical and demographic data were recorded. Specific attention was directed toward postmortem examination findings and genetic testing. CT and MR imaging results were reviewed. RESULTS: Five Cree infants were diagnosed with CLD. CT demonstrated bilateral symmetric hypoattenuation of the white matter and globus pallidus. MR imaging demonstrated corresponding T2 hyperintensity in these regions and abnormal signal intensity in the thalami and substantia nigra. Symmetric restricted diffusion in the deep white matter was seen. MRS demonstrated decreased NAA, elevated choline, and the presence of lactate. Postmortem examination in 1 infant showed corresponding poor myelination in the brain stem, cerebellum, deep gray structures, and the cerebral hemispheres. Genetic testing in 2 infants revealed homozygous mutations in the eIF2B5 gene. CONCLUSIONS: Neuroimaging in CLD is striking and is an important tool in diagnosing CLD. Extensive white matter involvement as well as involvement of the globus pallidus and patchy involvement of the thalami and substantia nigra are characteristic. MRS findings are compatible with destruction of normal brain parenchyma with evidence of anaerobic metabolism in the regions of demyelination. Clinical suspicion of VWM in a Native American infant from this region should prompt the consideration of CLD with appropriate imaging work-up and genetic testing.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".