An enigmatic tale of macrophages in bone marrow causing inflammation of the brain: A case report on CNS HLH
Bibliographic record
Abstract
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening immune disorder characterized by excessive inflammation and multiorgan involvement. Rarely, HLH can manifest with signs and symptoms isolated to the central nervous system (CNS). This case report highlights the unique clinical course of CNS-isolated HLH in a 19-year-old female who, despite a nine-year delay in diagnosis, achieved disease remission following a hematopoietic stem cell transplant (HSCT). CASE: The patient initially presented at 9 years old with seizures, ataxia, and progressive cognitive decline. Over the next nine years, extensive diagnostic evaluations were performed, including neuroimaging, cerebrospinal fluid analysis, and genetic testing. Genetic testing identified a compound heterozygous mutation in the PRF1 gene, confirming a diagnosis of familial HLH (FHL). The patient underwent hematopoietic stem cell transplant (HSCT) from an HLA-matched unrelated donor. Despite significant complications, including multiple infections and renal failure, she achieved remission. Six years post-transplant, the patient exhibited stabilization of neurological function, cessation of seizures, and absence of active HLH. CONCLUSION: This case underscores the importance of considering genetic testing in patients with unexplained CNS symptoms and atypical radiological findings. Timely HSCT, even in cases with delayed diagnosis, can lead to remission and improved quality of life.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.004 | 0.002 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.002 | 0.003 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.004 | 0.003 |
| 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".