Late-onset sporadic ataxia, pontine lesion, and retroperitoneal fibrosis: A case of Erdheim-Chester disease

E. Salsano, M. Savoiardo, S. Nappini, E. Maderna, B. Pollo, D. Chinaglia, U. Guerra, G. Finocchiaro, D. Pareyson

Research output: Contribution to journalArticlepeer-review

Abstract

A 60-year-old man with progressive gait ataxia and mild pyramidal signs showed at MRI a pontine lesion with post-contrast enhancement in the left middle cerebellar peduncle. Diagnosis of Erdheim-Chester disease (ECD), a rare non-Langerhans cell histiocytosis, was suggested, further supported by a previously diagnosed retroperitoneal fibrosis. X-ray films demonstrated characteristic bilateral and symmetric osteosclerosis of the long bones of the lower limbs, which at radionuclide studies exhibited a marked increase in technetium-99 uptake. A cerebral 18FDG-PET showed a relevant pontine uptake of the tracer. Re-evaluation of a past retroperitoneal biopsy showed an intense CD68+, CD1a-, and S100-infiltrate of histiocytes with foamy cytoplasm, thus confirming the diagnosis. ECD should be regarded as a rare cause of adult-onset sporadic ataxia, especially when pontine lesions and extraneurological manifestations are present.

Original languageEnglish
Pages (from-to)263-267
Number of pages5
JournalNeurological Sciences
Volume29
Issue number4
DOIs
Publication statusPublished - 2008

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology

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