Erdheim-Chester Disease

Case contribution: Dr Radhiana Hassan


  • a 12 years old girl
  • Presented with bilateral eye proptosis, gradual in severity over one year
  • Clinical examination shows small build girl with abnormal body figure
  • Bilateral proptosis with normal extraocular muscle movement
  • Visual acuity of both eyes are 6/6.
  • Cranial nerves are intact

MRI brain and orbit findings:

  • There are bilateral intraconal soft tissue mass (yellow arrows) which is isointense to muscle on T1 and T2WI with homogenous enhancement post contrast. It is not suppressed on STIR sequence.
  • The lesion is causing bilateral proptosis.
  • Optic nerve is seen encased within the lesion but no obvious infiltration.  Both optic nerves look prominent with normal signal intensity
  • Posterior extension to orbital apex but no expansion or widening of the canal
  • No abnormal enhancement of the optic chiasm.
  • Globes and extra-ocular muscles are normal.
  • Pituitary gland is also normal (images not shown)
  • Smooth dural thickening (white arrows) are also seen

Diagnosis: Erdheim-Chester Disease (presumed diagnosis)


  • Patient was referred to another centre for tissue biopsy and genetic work up


  • Erdheim-Chester disease is a rare non-Langerhans cell, non-familial multisystemic histiocytosis with widespread manifestation of highly variable severity.
  • In contrast to Langerhans cell histiocytosis (LCH), no S-100 nor CD1 are detected but CD68 is positive.
  • Both Erdheim-Chester and LCH may coexist.
  • It is a rare disease with a slight male predominance.
  • Patient presented with a variety of symptoms depending on organ involvement.
  • Musculoskeletal involvement is the most common.
  • Visceral involvement include lung, kidneys, retroperitoneum, heart, pericardium, aorta, skin and retro-orbital tissue.
  • Neurological manifestation include exophthalmos and diabetes insipidus from pituitary involvement (infundibulum and hypothalamus).
  • Retro- orbital changes include optic nerve oedema, retrobulbar mass that cause proptosis and motility impairment, retrograde extension along the optic nerve to the hypothalamus with brain involvement.
  • Intracranial involvement of the dura, brain and pituitary are rare. Dural involvement may mimics meningioma


Author: radhianahassan