Erdheim-Chester disease mimicking lumbar nerve schwannoma: case report and literature review

Spinal Cord Ser Cases. 2019 Oct 31:5:90. doi: 10.1038/s41394-019-0234-4. eCollection 2019.


Introduction: Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis. The clinical spectrum of ECD is diverse, varying from asymptomatic focal lesion to life-threatening multisystem infiltration. Neurological manifestations of ECD are common, mostly due to the involvement of the central nerve system. However, spinal nerve or peripheral nerve involvement has rarely been mentioned.

Case presentation: Herein, we present a case of a 32-year-old female patient complaining about radiating pain on the front and lateral side of her left thigh for 2 months. Spinal MRI with contrast enhancement showed a space-occupying lesion on the left L3/L4 intervertebral foramen, indicating an initial diagnosis of lumbar nerve schwannoma. The patient underwent surgery to remove the mass and decompress the lumbar nerve. Postoperative histological examination revealed the diffuse infiltration of foamy histiocytes that were CD68+, CD163+, and CD1a- on immunostaining, which confirmed the diagnosis of Erdheim-Chester disease. The radiating pain was gradually alleviated and PET-CT was performed but showed no further involvement of ECD.

Discussion: To the best of our knowledge, this is the first case of ECD demonstrated as an infiltrative mass on the spinal nerve, with imaging manifestations and compression symptoms similar to those of peripheral nerve schwannoma.

Keywords: Haematological cancer; Peripheral neuropathies.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Erdheim-Chester Disease / diagnostic imaging*
  • Erdheim-Chester Disease / surgery
  • Female
  • Humans
  • Lumbar Vertebrae / diagnostic imaging*
  • Lumbar Vertebrae / innervation*
  • Lumbar Vertebrae / surgery
  • Neurilemmoma / diagnostic imaging*
  • Neurilemmoma / surgery
  • Spinal Nerves / diagnostic imaging*
  • Spinal Nerves / surgery