Neuroradiologic findings and follow-up with magnetic resonance imaging of the genetic forms of haemophagocytic lymphohistiocytosis with CNS involvement

Pediatr Blood Cancer. 2012 May;58(5):810-4. doi: 10.1002/pbc.23405. Epub 2011 Nov 21.

Abstract

Haemophagocytic lymphohistiocytosis (HLH) is a rare hyperinflammatory syndrome caused by deficient down-regulation of the immune response. Presence of central nervous system (CNS) involvement at diagnosis is a poor prognostic sign, and should be carefully investigated. Herein, we describe the neuroradiological findings, clinical data, and treatment outcome in 12 patients with genetic HLH and CNS complications. Neuroimaging was important in identifying CNS involvement, monitoring treatment responses, and detecting treatment complications.

MeSH terms

  • Adolescent
  • Brain / pathology*
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Lymphohistiocytosis, Hemophagocytic / complications
  • Lymphohistiocytosis, Hemophagocytic / pathology*
  • Lymphohistiocytosis, Hemophagocytic / therapy
  • Magnetic Resonance Imaging / methods*
  • Male
  • Neuroimaging
  • Treatment Outcome