ArticleFrontiers in oncology2026
HLH and spinal neurofibroma: a single case report in a patient with DiGeorge syndrome.
Article in Frontiers in oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: DiGeorge syndrome is a rare genetic disorder with variable phenotypic and immunologic features associated to an increased risk of malignancy. Hemophagocytic lymphohistiocytosis (HLH) is a rare hyperinflammatory condition that can be triggered by infectious complications in immunodeficient patients like those with DGS. Case: We report the case of a 20-year-old female with intellectual and motor disabilities who was diagnosed with non-familial HLH at age of 12 months and underwent allogeneic hematopoietic stem cell transplantation due to early disease reactivation. Despite resolution of HLH and post-transplant GVHD, the patient's psychomotor delay persisted, and dysmorphic features became more pronounced. A an array-CGH on her fibroblasts was performed and identified a partial Conclusion: This is the first report of a case of DGS with early onset HLH and late occurrence of a neoplasm of uncertain biological potential. Careful clinical monitoring is essential due to the variability in clinical manifestations and level of immune alteration.
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