Erdheim-Chester disease in childhood: a challenging diagnosis and treatment

J Pediatr Hematol Oncol. 2009 Oct;31(10):782-6. doi: 10.1097/MPH.0b013e3181b76827.

Abstract

Erdheim-Chester disease is a rare, non-Langerhans systemic histiocytosis characterized by bilateral sclerosis of the metaphyseal regions of the long bones and infiltration in other organs. The histopathologic hallmark is defined by a mononuclear infiltrate of foamy histiocytes and rare pathognomonic Touton giant cells with extensive fibrosis. This condition is exceptional in children. We report here a case of Erdheim-Chester disease in a 10-year-old girl with retroperitoneal infiltration and bone involvement, for whom the diagnosis was only established after a 3-year course with multiple biopsies. It is also the first pediatric case successfully treated with interferon-alpha suggesting that interferon-alpha can be a safe and efficient first-line therapy for this disease in children.

Publication types

  • Case Reports

MeSH terms

  • Bone Diseases
  • Cell Movement
  • Child
  • Erdheim-Chester Disease / diagnosis*
  • Erdheim-Chester Disease / drug therapy*
  • Female
  • Humans
  • Interferon-alpha / therapeutic use
  • Remission Induction

Substances

  • Interferon-alpha