Case Report: Gait Deterioration in a Patient with EAST (Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy) Syndrome
Bibliographic record
Abstract
Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy (EAST) syndrome or seizures, sensorineural deafness, ataxia, mental retardation (SeSAME) is a very rare, autosomal recessive disorder resulting from homozygous or compound heterozygous loss-of-function variations in the KCNJ10 gene, affecting <1:1.000.000 individuals. Ambulation problems, such as ambulation delays and ataxia, are common in this syndrome. The disorder can remain undiagnosed in adults due to its rarity. Here, we describe the case of a patient with genetically proven EAST syndrome at the age of 18. The patient experienced a dramatic deterioration in his walking ability 7 years after the diagnosis when he was 25 years old. However, the main reason for gait deterioration was cervical spinal cord compression by cervical disc prolapse which was determined through magnetic resonance imaging during further examinations. Cervical myelopathy caused increased spasticity and gait deterioration in this patient. He underwent single-level anterior cervical decompression and fusion without any complication and improved postoperatively. Although worsening neurological findings in patients with EAST syndrome have been reported, in-depth clinical, radiological, and laboratory examinations can clarify the increasing deterioration in motor functions. Concomitant pathologies can occur, which should be kept in mind for better diagnosis and treatment, especially for patients with EAST syndrome.
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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 | 0.005 | 0.003 |
| Insufficient payload (model declined to judge) | 0.001 | 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".