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BMJ Case Reports 2017; doi:10.1136/bcr-2017-220827
  • Rare disease
  • CASE REPORT

Erdheim-Chester disease: atypical presentation of a rare disease

  1. Naomi Arakaki4
  1. 1Department of Neurology, Hospital de Clinicas Jose de San Martin, Buenos Aires, Argentina
  2. 2Neurology, Hospital El Cruce de Alta Complejidad, Florencio Varela, Buenos Aires, Argentina
  3. 3Department of Pathology, Hospital de Clinicas Jose de San Martin, Buenos Aires, Argentina
  4. 4Department of Neuropathology, Institute for Neurological Research, FLENI, Buenos Aires, Argentina
  1. Correspondence to Dr Cristian Ricardo Calandra, cristianrcalandra{at}gmail.com
  • Accepted 26 September 2017
  • Published 11 October 2017

Summary

We report the clinical case of an adult patient referred to our hospital because of trismus due to a tumour in the right infratemporal and pterygomaxillary fossa. He referred hyporexia, weight loss and right trigeminal neuralgia. On physical examination, he had trismus and diplopia. On neuroimaging, the tumour invaded the central nervous system affecting the right temporal lobe and orbit, and the sellar region. Tumour biopsy revealed foamy histiocytes and isolated giant multinuclear cells immunoreactive to CD68 and negative to CD1a and S100. A diagnosis of Erdheim-Chester disease was made. Non-evidence of large bone involvement was found in neither plain radiographs nor Technetium 99 m bone scintigraphy. BRAFV600E mutation analysis was negative. Because of raised intracranial pressure, a debulking surgery of the intracranial histiocytic process was performed. The patient improved his symptoms and remains clinically stable after 12 months of treatment with pegylated interferon-α−2a 180 µg/weekly.

Footnotes

  • Contributors CRC: substantial contributions to the conception of the work, the acquisition, analysis of data, drafting the work. AB: substantial contributions to the acquisition of data, drafting the work. FF: substantial contributions to the acquisition of data, drafting the work. NA: substantial contributions to the conception of the work, the acquisition, analysis of data, drafting the work. All authors agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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