ArticleOrphanet journal of rare diseases2025
A rare cause of diffuse alveolar hemorrhage in a pediatric patient: thigh localization of INI1-deficient epithelioid sarcoma.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
backgroundDiffuse alveolar hemorrhage (DAH) is a group of rare but life-threatening conditions characterized by bleeding into the alveolar spaces, often associated with various etiologies. Epithelioid sarcoma (ES) is a rare and aggressive soft tissue sarcoma that has never been reported to be associated with DAH.
methodsWe report a rare case of ES in a pediatric patient presenting with DAH and intracranial hemorrhagic lesions. Diagnostic evaluations included high-resolution chest CT (HRCT), bronchoscopy, brain MRI, lung biopsy, Positron emission tomography - computed tomography (PET-CT), and biopsy of a mass in the right thigh. Fluorescence in situ hybridization was performed to detect SMARCB1 (INI1) gene deletion.
resultsA 13-year-old male presented with anemia and later developed hemoptysis with a decreased hemoglobin level. HRCT revealed bilateral ground-glass opacities consistent with DAH. Extensive autoimmune and infectious workups were all negative. Brain MRI demonstrated microhemorrhages. Despite corticosteroid therapy, the patient's condition worsened. PET-CT identified a hypermetabolic soft tissue mass in the right thigh, which on histopathological examination was confirmed as INI1-deficient ES. FISH analysis confirmed INI1 deletion.
conclusionThis case highlights the diagnostic challenges of INI1-deficient ES presenting with DAH and underscores the importance of considering malignancy in pediatric patients with atypical DAH. Multidisciplinary approaches, including advanced imaging and molecular diagnostics, are crucial for accurate diagnosis and management.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.