PT  - JOURNAL ARTICLE
AU  - T Fukazawa
AU  - E Tsukishima
AU  - H Sasaki
AU  - K Hamada
AU  - T Hamada
AU  - K Tashiro
TI  - Erdheim-Chester disease and slowly progressive cerebellar dysfunction.
AID  - 10.1136/jnnp.58.2.238
DP  - 1995 Feb 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 238--240
VI  - 58
IP  - 2
4099  - http://jnnp.bmj.com/content/58/2/238.short
4100  - http://jnnp.bmj.com/content/58/2/238.full
SO  - J Neurol Neurosurg Psychiatry1995 Feb 01; 58
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.