MRI Findings of Adult Maple Syrup Urine Disease Exacerbation
Bibliographic record
Abstract
Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid (bCAA) metabolism that manifests in early infancy.While there is ample description of imaging features of neonates in the medical literature, the neuroimaging findings in adults have not been as well described; the disorder only rarely presents in adulthood, and children that survive beyond infancy are usually maintained on strict dietary control to prevent metabolic decompensation.We present a case of an adult with MSUD exacerbation to highlight the apparent discrepancy between imaging findings in adults with this disorder and the typical imaging appearance in younger patients. CASEA 36-year-old male patient presented to our emergency department with a five day history of decreased oral intake, memory disturbance, impaired balance, nausea and urinary retention.The symptoms were likely triggered by a one-week history of the patient inadvertently drinking an incorrect metabolic formula, providing him with an excess of dietary leucine.The patient had a past medical history of classical MSUD diagnosed in infancy, with multiple hospitalizations in childhood for disease control.Additionally, he suffered from osteoporosis, with a prior hip fracture in 2006.On neurological examination, he was confused, with moderate worsening of his baseline symptoms of cerebellar dysfunction including bilateral dysdiadochokinesis, mild right sided dysmetria, difficulty with tandem gait, and abnormal gait with circumduction.laboratory studies revealed significantly elevated bCAA levels; specifically -leucine: 2766 umol/l (reference range (RR): 71-175 umol/l); isoleucine: 875 umol/l (RR: 35-97 umol/l); and valine: 2134 umol/l (RR: 116-315 umol/l).baseline bCAA levels over the last three years had been within the ranges of: leucine: 381-638 umol/l; isoleucine: 43-146 umol/l; valine: 96-309 umol/l.A magnetic resonance imaging (MRI) study was subsequently performed on a 3 Tesla Siemens scanner, including a sagittal spin-echo T1 sequence (echo train (eT): 1, echo time (Te): 8.40 milliseconds (ms), repetition time (TR): 700.00 ms, display field-of-view (DFOv): 22.0 x 22.0 centimeters (cm), matrix: 256 x 218, slice thickness (ST): 4.0 millimeters (mm)), axial fast recovery fast spin echo T2 sequence (eT: 18, Te: 92.00 ms, TR: 5180.00 ms, DFOv: 22.0 x 22.0 cm, matrix: 320 x 320, ST: 4.0 mm), axial fluid-attenuated inversion recovery (FlAIR) sequence (eT: 16, Te: 94.00 ms, TR: 9000.00 ms, TI: 2500.00ms,DFOv:
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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 | 0.001 |
| 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 | 0.000 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| 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".