Infant with Refractory Seizures and Characteristic Diffusion Restriction Pattern on Neuroimaging
Bibliographic record
Abstract
A 13-month-old girl, the third born to consanguineous parents of South Asian origin, presented at 2 months of age with clustering of multiple brief episodes of focal seizures (eye-blinking, staring and desaturation) and generalized seizures.She was treated with supportive measures and multiple antiseizure medications.Antenatal ultrasound revealed intrauterine growth retardation (IUGR).The baby was born full term via vaginal delivery (birth weight, 2420 g); the baby required hospitalization due to poor sucking, hypotonia and hypoglycemia.Brain MRI at 9 weeks of age is shown (Figure 1A-H).Electroencephalography done at 2 months and 5 months of age showed multifocal epileptiform abnormalities, more frequent in the bilateral posterior head region and disorganized background.Screening for inborn error of metabolism was noncontributory.Subsequent trio genome sequencing 1 detected a homozygous pathogenic variant NM_033453.4:c.137del;p.(Gln46Argfs*43) in exon 3 of the inosine triphosphatase (ITPA) gene, confirming the diagnosis of developmental and epileptic encephalopathy 35 (DEE35).Both parents were heterozygous for this variant.There were no additional reportable genetic findings.The child exhibited failure to thrive, profound developmental delay, microcephaly and refractory seizures.Poor visual fixation and following of light were observed.Axial hypotonia was more pronounced than appendicular hypotonia, and brisk deep tendon reflexes were observed.Atrial septal defect (ASD), bilateral talipes equinovarus and congenital right hip dysplasia were also detected.Follow-up brain MRI at 9 months of age (Figure 2A-H) revealed persistence of diffusion restriction and a lag in myelination.Echocardiography follow-up at 7 months of age revealed moderate secundum ASD (left to right shunt), deficient aortic rim and moderately dilated right ventricle.ASD was likely to be fenestrated.Seizure control was achieved with a combination of levetiracetam, phenobarbitone and topiramate starting at 10 months of age.
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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) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.003 |
| Insufficient payload (model declined to judge) | 0.003 | 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".