Retinal microangiopathy and rapidly fatal cerebral edema in a patient with adult-onset Still's disease and concurrent macrophage activation syndrome

Am J Hematol. 2008 May;83(5):424-7. doi: 10.1002/ajh.21084.


Hemophagocytic lymphohistiocytosis (HLH) is a complex inflammatory disease with multiple diagnostic and therapeutic pitfalls. The congenital form, referred to as familial hemophagocytic lymphohistiocytosis (FHL), is often associated with cerebromeningeal involvement, whereas neurological complications are not characteristic of the adult form of secondary HLH (sHLH). Here we report the case of a 20-year-old woman with adult-onset Still's disease (AOSD), retinal microangiopathy and concurrent macrophage activation syndrome (MAS), in the context of sHLH. Following treatment with etanercept, ibuprofen, methylprednisolone, and phenylbutazone for 3 weeks, MAS deteriorated and fatal cerebral edema occurred within only 24 h. The clinical signs and neuropathological findings are discussed with special emphasis on possible relationships between the aggravation of MAS and therapeutic interventions for AOSD. In conclusion, even the slightest sign of mental decline in a patient with AOSD must be considered central nervous system MAS which can be rapidly fatal.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain Edema / diagnosis
  • Brain Edema / etiology*
  • Brain Edema / pathology
  • Confusion / etiology
  • Drug Therapy, Combination
  • Early Diagnosis
  • Etanercept
  • Fatal Outcome
  • Female
  • Humans
  • Ibuprofen / therapeutic use
  • Immunoglobulin G / therapeutic use
  • Immunosuppressive Agents / therapeutic use
  • Lymphohistiocytosis, Hemophagocytic / blood
  • Lymphohistiocytosis, Hemophagocytic / etiology*
  • Lymphohistiocytosis, Hemophagocytic / pathology
  • Macrophage Activation*
  • Magnetic Resonance Imaging
  • Methylprednisolone / therapeutic use
  • Phenylbutazone / therapeutic use
  • Receptors, Tumor Necrosis Factor / therapeutic use
  • Retinal Diseases / etiology*
  • Retinal Vessels / pathology
  • Still's Disease, Adult-Onset / complications*
  • Still's Disease, Adult-Onset / drug therapy


  • Immunoglobulin G
  • Immunosuppressive Agents
  • Receptors, Tumor Necrosis Factor
  • Phenylbutazone
  • Etanercept
  • Ibuprofen
  • Methylprednisolone