HLH and spinal neurofibroma: a single case report in a patient with DiGeorge syndrome

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.

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 de novo deletion on chromosome 22, consistent with DiGeorge Syndrome (DGS). At 15 years, imaging performed because of persistent and worsening back pain, revealed an intraneural/intraradicular atypical neurofibroma which was partially resected leading to symptoms disappearance.

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.