Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolism
Bibliographic record
Abstract
Dysgenesis of the corpus callosum has been recognized as a marker for aberrant development of the central nervous system. It has been suggested that developmental defects of the corpus callosum may be more frequently encountered in patients with inborn errors of metabolism. The objectives of the present study were to determine the prevalence of developmental defects of the corpus callosum in patients attending a genetics-metabolic disorders clinic, to describe the spectrum of abnormalities in brain development in patients with confirmed inborn errors of metabolism and abnormalities of the corpus callosum as ascertained by neuroimaging and/or postmortem studies. Nineteen patients (10 males, 9 females) with confirmed metabolic diagnoses were identified by systematic search of the genetics clinic database. All 19 (100%) expressed variable degrees of hypoplasia, complete or partial agenesis (ACC). Abnormalities of head size were noted in 17/19 (89.5%). The majority 12/17 (70.5%) were associated with microcephaly, while macrocrania was noted in 5/17 (29.5%). Associated central nervous system (CNS) anomalies included abnormalities in ventricular morphology in 18/19 (94.7%), ventriculomegaly in 11/19 (63.1%), increased extraxial cerebrospinal fluid space in 11/19 (57.9%), changes in the gray matter (neuronal migration defects, porencephaly) in 9/19 (47.3%), white matter changes in 12/19 (63.1%) and abnormalities of the posterior fossa and hindbrain in 12/19 (63.1%). In patients with inborn errors of metabolism, dysgenesis of the corpus callosum serves as a marker for other developmental defects within the nervous system. We discuss here potential mechanisms by which metabolic defects affect diverse biochemical pathways, altering key neurobiological processes (e.g. defective cell membrane formation, cellular bioenergetics and cell-to-cell signaling), that eventually lead to structural abnormalities in the developing nervous system.
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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".