[Cerebellar syndrome, exophthalmos and secondary hypogonadism in Erdheim-Chester disease].
We present a 50-year-old patient with a slowly progressive cerebellar syndrome, left-sided exophthalmos, secondary hypogonadism, and multiple pleomorphous skin alterations. The diagnosis of Erdheim-Chester disease was established by the radiological detection of a left-sided retrobulbar space-occupying mass, a hypophysial stalk lesion, alterations in both cerebellar hemispheres, retroperitoneal imbibition, osteolytic/osteosclerotic changes in the metaphysis and diaphysis of the long bones, and a skin biopsy with histological detection of a non-Langerhans-cell histiocytosis. The etiology of the Erdheim-Chester disease is unknown. Cerebral manifestations of this rare disease have been documented in only a very few cases. Whereas the extracranial alterations are due to pathologic histiocyte proliferation, cerebellar changes are considered to be the result of demyelinisation or infiltration of xanthogranulomas.
Grothe
C
C
Neurologische Universitätsklinik Bonn, Sigmund Freud Strasse 25, 53105 Bonn. c.grothe@uni-bonn.de
Urbach
H
H
Bös
M
M
Ko
Y
Y
Schröder
R
R
D001706:Biopsy; D002526:Cerebellar Diseases / Q000175:diagnosis* / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D003937:Diagnosis, Differential; D005094:Exophthalmos / Q000175:diagnosis* / Q000473:pathology; D015616:Histiocytosis, Non-Langerhans-Cell / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D012867:Skin / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014973:Xanthomatosis / Q000175:diagnosis / Q000473:pathology