Acute evidence of CNS inflammation in patients with mitochondrial diseases. (P4.053)
Bibliographic record
Abstract
Objective To describe three children with genetically-confirmed or biochemically-suggestive mitochondrial disease who manifested with monophasic or recurrent episodes of neurologic deterioration associated with MRI and CSF evidence of inflammation. Background: Acquired demyelinating syndromes (ADS) and mitochondrial disorders are typically considered distinct etiologies. However, mitochondrial dysfunction has been implicated in multiple sclerosis, and CNS inflammation was reported in some neurodegenerative diseases. The inter-relationship specifically between mitochondrial disease and episodic CNS inflammation, however, is not established. Results: Case 1: A 9-year-old boy, with mild cognitive impairment, presented with relapsing demyelination involving the brainstem, the cerebellum and the spinal cord. CSF was acellular with normal protein, raised lactate and positive oligoclonal bands (OCB). He did not respond to steroids and IVIG but showed clear improvement, initially, following plasmapheresis (PLEX). Genetic testing identified a pathogenic mutation in ND4 . Case 2: An 11-year-old boy presented with ataxia, multiple cranial neuropathies and abnormal signal in the left superior cerebellar peduncle and dorsal midbrain on imaging. CSF was acellular with normal protein and lactate and positive OCBs. Treatment with steroids and IVIG resulted in stabilization of symptoms without the accumulation of further deficits over 2 years. Muscle biopsy was consistent with a mitochondrial DNA depletion syndrome. Case 3: A 7-year-old boy suffered four episodes of encephalopathy with multiple MRI contrast-enhancing lesions in the brain and spinal cord over one year, responding to corticosteroids . He was stable for one year on rituximab. Following cessation of treatment, he re-presented with encephalopathy, cerebellar symptoms and optic neuritis. CSF lactate was elevated. Genetic testing revealed a mutation in the DARS2 gene. Conclusion: Mitochondrial diseases and ADS in children are rare conditions; their co-occurrence suggests possible immune activation resulting from intracellular mitochondrial dysfunction. Treatment of the inflammatory response may be beneficial, but the role for long-term immunosuppression remains unknown.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 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".