Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder
Bibliographic record
Abstract
Abstract Combined methylmalonic aciduria and homocystinuria (cobalamin C deficiency, cblC) is a well‐described disorder of vitamin B 12 metabolism caused by mutations in the MMACHC gene with multisystemic manifestations. While there is no cure, combined treatment with intramuscular hydroxycobalamin and oral betaine may reduce the severity of symptoms and improve clinical outcome. We report a female patient diagnosed with late‐onset cobalamin C deficiency at the age of 8 months who presented with developmental regression and severe dermatitis. She developed a movement disorder after initiation of hydroxycobalamin treatment. Similar movement disorders have been described in patients with nutritional vitamin B 12 deficiencies following cobalamin supplementation but have not previously been reported in patients with cobalamin C disorder. The movement disorder in our patient gradually resolved with clonazepam treatment, despite no seizure activity detected on EEG. She was eventually weaned off the clonazepam and the abnormal movements have not recurred. The patient remains developmentally delayed but is showing no other symptoms related to cobalamin C deficiency. The patient has a younger affected sibling who was treated from birth and who is physically and developmentally entirely normal; she did not have abnormal movements after treatment with hydroxycobalamin was initiated. There is no clear consensus on the cause of movement disorders that develop following initiation of intramuscular vitamin B 12 treatment.
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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) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| 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".