ArticlePediatric radiology2026
Clinical and neuroimaging features of familial hemophagocytic lymphohistiocytosis.
Article in Pediatric radiology, 2026. 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
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHemophagocytic lymphohistiocytosis is a non-malignant immune regulation disorder, with activation of uncontrolled inflammatory processes and multiorgan damage; primary hemophagocytic lymphohistiocytosis is genetic.
objectivesTo analyze clinical and brain magnetic resonance imaging features in children with familial hemophagocytic lymphohistiocytosis. MATERIALS AND
methodsThis retrospective study included 28 children with molecularly confirmed hemophagocytic lymphohistiocytosis. Clinical and laboratory manifestations at initial presentation and upon reactivation were recorded. Routine brain magnetic resonance imaging scans were reviewed and severity scores were calculated for different molecular types.
resultsEleven (39.4%) children presented with neurological symptoms, 13 (46.4%) with developmental delays, and four with altered levels of consciousness. Lesions predominated in white matter (39.3% subcortical, 35.7% periventricular, and 7.1% central), although 25% had gray matter involvement; 78.6% of the cases presented with cerebral volume loss. Brain stem, cerebellar, and meningeal involvement were observed in 14.3%, 25%, and 7.1%, respectively. The most common mutations were in UNC13D (53.6%), PRF (21.4%), RAB27A (17.9%), and STBXP2 (7.1%); of the children with these mutations, neurological symptoms were observed in 20%, 50%, 80%, and 50%, respectively. Central nervous system reactivation was more prevalent in patients with RAB27A mutations (60%). White matter changes were noted in 16.7% of PRF cases, predominantly involving central regions, whereas 80% of RAB27A cases exhibited periventricular white matter abnormalities. RAB27A mutations were associated with higher white matter severity scores, whereas UNC13D mutations had higher cerebral atrophy scores.
conclusionVariable imaging manifestations were observed in familial hemophagocytic lymphohistiocytosis, with white matter involvement predominating. Patients with RAB27A mutations had more frequent clinical and imaging-based neurological involvement.
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.