Rare Diseases Symptoms Automatic Extraction

Visualization of orbital involvement of Erdheim-Chester disease on PET/CT.

[erdheim-chester disease]

We report a 58-year-old man who presented with swelling and redness in his left eye, headache, and blurred vision. A contrast-enhanced CT of the orbits revealed bilateral orbital masses. Whole-body PET/CT showed bilateral retrobulbar hypermetabolic soft tissue lesions, multiple areas of soft tissue involvement, and osseous lesions in bilateral lower extremities. An open surgical biopsy of the left orbital mass revealed xanthomatous non-Langerhans histiocytic infiltrate with Touton giant cells, positive for CD68 but negative for CD1a, establishing a diagnosis of Erdheim-Chester disease.

Diseases presenting "headache" symptom

  • acute rheumatic fever
  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • cadasil
  • cushing syndrome
  • cutaneous mastocytosis
  • erdheim-chester disease
  • esophageal squamous cell carcinoma
  • familial mediterranean fever
  • hereditary cerebral hemorrhage with amyloidosis
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • legionellosis
  • locked-in syndrome
  • malignant atrophic papulosis
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • typhoid
  • von hippel-lindau disease

This symptom has already been validated