Trilateral Retinoblastoma with Pituitary-Hypothalamic Dysfunction
Bibliographic record
Abstract
Trilateral retinoblastoma is characterized by retinal tumors in one or both eyes, as well as tumors of the pineal gland or parasellar region of the brain. Here we describe a 4-month-old girl, presenting with pituitary dysfunction, hypothalamic overgrowth syndrome and central blindness, in addition to suprasellar and bilateral retinal tumors. Biopsy of the suprasellar tumor confirmed the diagnosis of trilateral retinoblastoma. After biopsy, cerebrospinal fluid (CSF) metastasis was discovered. Overgrowth persisted, but blindness and pituitary dysfunction resolved when the suprasellar tumor and CSF metastasis responded to cyclosporine-modulated systemic chemotherapy with intraventricular chemotherapy, consolidated with marrow-ablative chemotherapy and stem cell rescue of the bone marrow. Twenty months after diagnosis and 12 months after transplant, an unusual pattern of tumor recurrence was observed along the catheter of the Ommaya reservoir used for delivering intraventricular chemotherapy, which was also at the site of the previous suprasellar needle biopsy. Salvage therapy consisted of resection, stereotactic radiation, and further systemic and intraventricular chemotherapy. At 25 months after diagnosis, the patient was developing well and seeing better. However, she died 32 months after diagnosis despite the salvage therapy. This case highlights the possibility of tumor dissemination after needle biopsy of a suprasellar tumor. Biopsy may be avoided if a characteristic clinicoradiological picture of trilateral retinoblastoma is recognized. We recommend that if a pineal or suprasellar tumor is observed in a child, the eyes should be examined for retinoblastoma, thereby avoiding biopsies of the intracranial tumor, which may track difficult-to-treat tumor cells through the brain, and disseminate tumor cells into the CSF.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 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".