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

doi:10.1007/s10072-008-0978-2

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

Neurol Sci. 2008 Sep;29(4):263-7. doi: 10.1007/s10072-008-0978-2. Epub 2008 Sep 20.

Authors

E Salsano¹, M Savoiardo, S Nappini, E Maderna, B Pollo, D Chinaglia, U Guerra, G Finocchiaro, D Pareyson

Affiliation

¹ Division of Biochemistry and Genetics, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.

PMID: 18810602
DOI: 10.1007/s10072-008-0978-2

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.

Publication types

Case Reports

MeSH terms

Afferent Pathways / pathology
Afferent Pathways / physiopathology
Biomarkers / analysis
Biomarkers / metabolism
Bone and Bones / diagnostic imaging
Bone and Bones / pathology
Brain Mapping
Cerebellar Ataxia / diagnostic imaging
Cerebellar Ataxia / etiology*
Cerebellar Ataxia / pathology
Cerebellum / pathology
Cerebellum / physiopathology
Disease Progression
Erdheim-Chester Disease / complications*
Erdheim-Chester Disease / diagnosis
Erdheim-Chester Disease / physiopathology
Fluorodeoxyglucose F18
Hearing Loss, Central / etiology
Hearing Loss, Central / pathology
Hearing Loss, Central / physiopathology
Histiocytes / immunology
Histiocytes / pathology
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Orbit / pathology
Orbit / physiopathology
Pons / diagnostic imaging
Pons / pathology*
Pons / physiopathology
Positron-Emission Tomography
Retroperitoneal Fibrosis / etiology*
Retroperitoneal Fibrosis / pathology
Retroperitoneal Fibrosis / physiopathology
Technetium

Substances

Biomarkers
Fluorodeoxyglucose F18
Technetium