Atypical Leigh Syndrome Diagnosed in an Infant with Prominent Cardiac Hypertrophy as Initial Symptom: A Case Report with Novel LRPPRC Variants
Bibliographic record
Abstract
Abstract Background: Leigh syndrome is a kind of severe neurological disorder with various inheritable patterns usually affects children, especially the infants. Lack of characteristic neurodegenerative symptoms cause the delay and inaccurate diagnosis of Leigh syndrome, which is essential for the prognosis in pediatric clinical practice.Case presentation: A 10-day-old Chinese boy was first admitted to hospital with feeding difficulty, elevated lactate and prominent cardiac hypertrophy as initial symptom but without neurological abnormality. Subsequent identification of novel LRPPRC compound heterozygous variants c.2582T>A (p.Val861Asp) and c.1582+4A>G by whole exome sequencing seemed to favor French-Canadian Leigh syndrome. This diagnosis was further supported by the rapid progression of neuropathology manifesting as epileptic seizures 5 months later and the significantly reduced mitochondrial complex-IV activity.Conclusion: This tortuous process of diagnosis should raise the recognition of rare untypical type of Leigh syndrome, and emphasize the important role of genetic testing in current pediatric clinic. The observation also broadens the spectrum of LRPPRC variants associated with Leigh syndrome outside of French-Canadian areas.
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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 | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 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".