Erdheim-Chester disease: atypical presentation of a rare disease.

Autor: Calandra CR; Department of Neurology, Hospital de Clinicas Jose de San Martin, Buenos Aires, Argentina.; Neurology, Hospital El Cruce de Alta Complejidad, Florencio Varela, Buenos Aires, Argentina., Bustos A; Department of Neurology, Hospital de Clinicas Jose de San Martin, Buenos Aires, Argentina., Falcon F; Department of Pathology, Hospital de Clinicas Jose de San Martin, Buenos Aires, Argentina., Arakaki N; Department of Neuropathology, Institute for Neurological Research, FLENI, Buenos Aires, Argentina.
Jazyk: angličtina
Zdroj: BMJ case reports [BMJ Case Rep] 2017 Oct 11; Vol. 2017. Date of Electronic Publication: 2017 Oct 11.
DOI: 10.1136/bcr-2017-220827
Abstrakt: 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.
Competing Interests: Competing interests: None declared.
(© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)
Databáze: MEDLINE
Externí odkaz: