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.
Sommario
Descriviamo il caso di un uomo di 60 anni con quadro neurologico progressivo caratterizzato principalmente da atassia della marcia e modesti segni piramidali, in cui la risonanza magnetica dell’encefalo dimostrava una lesione pontina con un’area di impregnazione del mezzo di contrasto nel peduncolo cerebellare medio sinistro. Il sospetto di malattia di Erdheim-Chester, una rara istiocitosi non-Langerhans, era ulteriormente avvalorato dalla presenza di una fibrosi retroperitoneale diagnosticata in precedenza. Le indagini radiografiche hanno documentato la presenza delle tipiche alterazioni osteosclerotiche bilaterali e simmetriche delle ossa lunghe degli arti inferiori che alla scintigrafia ossea con tecnezio-99 hanno dimostrato una intensa captazione del tracciante, particolarmente a livello delle ginocchia. La PET cerebrale con 18FDG ha rivelato una intensa captazione del tracciante a livello pontino. La rivalutazione di una biopsia retroperitoneale eseguita in passato ha confermato la diagnosi di malattia di Erdheim-Chester sulla base del riscontro di un marcato infiltrato di istiociti con citoplasma schiumoso CD68 positivi, ma CD1a ed S100 negativi. La malattia di Erdheim-Chester deve essere considerata tra le cause di atassia sporadica ad esordio tardivo, soprattutto quando sono presenti lesioni pontine e manifestazioni extraneurologiche associate.
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Salsano, E., Savoiardo, M., Nappini, S. et al. Late-onset sporadic ataxia, pontine lesion, and retroperitoneal fibrosis: a case of Erdheim-Chester disease. Neurol Sci 29, 263–267 (2008). https://doi.org/10.1007/s10072-008-0978-2
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DOI: https://doi.org/10.1007/s10072-008-0978-2