[Type I spinal atrophy (Werdnig-Hoffman disease). Case report].
Bibliographic record
Abstract
BACKGROUND: We report a case of type I spinal muscular atrophy (SMA), also known as Werdnig-Hoffmann disease. METHODS: This was a descriptive case report. The patient was in the pediatric intensive care unit of a medical center. CASE REPORT: The patient was a 5 1/2 month-old male admitted to the emergency room from another hospital with a diagnosis of pneumonia with right apical atelectasis and with poor clinical evolution. The patient showed symptoms of acute respiratory failure and also generalized muscular weakness. Auscultation showed disseminated crackles, ronchi and hypotonic limbs. In view of his respiratory condition he was admitted to the Pediatric Intensive Care Unit and intubated. Chest X-ray showed a narrow chest with an apical infiltration and a left parahilar atelectasis. During the first days in the ICU, successful extubation was not possible because the patient showed hypoxemia and bradycardia. SMA was suspected because of the general muscular weakness; therefore, biopsy and neurophysiology studies were performed, demonstrating an axonal motor polyneuropathy with tongue fasciculations and signs of chronic denervation. The Pathology Service reported neurogenic fascicular atrophy and genetic analysis supported the diagnosis by blood test sampling, revealing a homozygous state for a deletion on exon 7 of the gene SMN1. Fifteen days after his admission to the hospital, the patient showed severe respiratory and heart failure to the CPR maneuvers. CONCLUSIONS: Type 1 SMA is a rare entity with few cases reported in the literature, but it is important for the pediatrician to be familiar with this disease because of its severe implications.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| 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 | 0.004 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.002 |
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".