Woodhouse-Sakati Syndrome With Psychosis and Basal Ganglia Calcification: A Case Report
Bibliographic record
Abstract
Woodhouse Sakati syndrome is a rare autosomal recessive multisystem disorder characterized by neuropsychological, endocrinal, and ectodermal symptoms. We report a 52-year-old Saudi female with psychosis, extrapyramidal signs, sensorineural hearing loss, diabetes, hypothyroidism, amenorrhea, hypergonadotropic hypogonadism, absence of secondary sexual characters, and alopecia totalis. Her brain computed tomography (CT) showed bilateral basal ganglia calcification and her genetic testing confirmed homozygous single nucleotide deletion (C.436delC) of frameshift mutation (p.A147HfsX9) in exon 4 of the gene DCAF17 gene. Woodhouse Sakati syndrome seems to be more prevalent, and probably underdiagnosed, in the Middle East and Arab countries, and should be considered in patients with a combination of neurological and endocrinal dysfunction. To our knowledge, this is the first case reported to have psychotic symptoms. J Med Cases. 2018;9(2):73-75 doi: https://doi.org/10.14740/jmc2996w
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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 | 0.002 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.003 |
| Research integrity | 0.004 | 0.002 |
| 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".