Familial hemophagocytic lymphohistiocytosis that presented with major CNS inflammatory activity; treatment with allo matched sib HSCT June 2008 that engrafted well. Currently spastic quadriparesis, major cognitive deficit, and Increasing frequency of seizures. There is extensive diffuse cerebral, brainstem, and cerebellum volume loss with white matter T2 hyperintensity, which may represent gliosis and is not significantly changed. There is no evidence of intracranial hemorrhage, mass, or acute infarct. There is no abnormal intracranial enhancement. There is no midline shift or herniation. The major cerebral flow voids are intact. The orbits, skull, and scalp soft tissues are grossly unremarkable. There is a small right maxillary sinus retention cyst.
No significant interval change in the extensive chronic sequela of intracranial familial hemophagocytic lymphohistiocytosis.