Late-onset sporadic ataxia, pontine lesion, and retroperitoneal fibrosis: a case of Erdheim-Chester disease.
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.
Salsano
E
E
Division of Biochemistry and Genetics, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.
Savoiardo
M
M
Nappini
S
S
Maderna
E
E
Pollo
B
B
Chinaglia
D
D
Guerra
U
U
Finocchiaro
G
G
Pareyson
D
D
D000344:Afferent Pathways / Q000473:pathology / Q000503:physiopathology; D015415:Biomarkers / Q000032:analysis / Q000378:metabolism; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D001931:Brain Mapping; D002524:Cerebellar Ataxia / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D018450:Disease Progression; D031249:Erdheim-Chester Disease / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D019788:Fluorodeoxyglucose F18; D006313:Hearing Loss, Central / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D006644:Histiocytes / Q000276:immunology / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009915:Orbit / Q000473:pathology / Q000503:physiopathology; D011149:Pons / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology; D049268:Positron-Emission Tomography; D012185:Retroperitoneal Fibrosis / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D013667:Technetium
D015415:Biomarkers; D019788:Fluorodeoxyglucose F18; D013667:Technetium