RT Journal Article
SR Electronic
T1 Erdheim-Chester disease and slowly progressive cerebellar dysfunction.
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 238
OP 240
DO 10.1136/jnnp.58.2.238
VO 58
IS 2
A1 T Fukazawa
A1 E Tsukishima
A1 H Sasaki
A1 K Hamada
A1 T Hamada
A1 K Tashiro
YR 1995
UL http://jnnp.bmj.com/content/58/2/238.abstract
AB A 59 year old woman developed pronounced thirst, increased water intake, and increased urinary output followed by slowly progressive cerebellar symptoms. Brain MRI showed abnormal hyperintensity on T2 weighted studies in the region of both dentate nuclei without atrophy of the cerebellum or the brainstem. A 99mTC diphosphonate bone scan showed bone lesions in the distal parts of both femurs as well as distal and proximal parts of both tibias. The diagnosis of Erdheim-Chester disease was made by bone biopsy. This is the first case of Erdheim-Chester disease presenting as a slowly progressive cerebellar syndrome and diabetes insipidus, and also showing high signal lesions in deep cerebellar nuclei on MRI. Skeletal surveys are indicated for patients with otherwise unexplained slowly progressive cerebellar symptoms.