Erdheim-Chester disease and slowly progressive cerebellar dysfunction.

Abstract

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.

Erdheim-Chester Disease with Spinal Cord Manifestations

“…The bone disease is widespread with predilection for ankles, knees and wrists and is best recognized on an isotope bone scan. Extraskeletal involvement has been described in other mesenchymal tissues [2][3][4][5][6][7].…”

“…Extra-axial and intra-axial central nervous system lesions have been described with a variety of focal neurologic signs. These include ataxia with hyperintense foci in the dentate nuclei [4], pseudobulbar signs and incoordination with upper brainstem enhanced MRI lesions [8], mental problems and multiple parasagittal and epidural lesions [9], a choroid plexus lesion [8,9] and a spinal dural infiltrate [3,6]. We describe a new case with symptoms of spinal cord compression.…”

“…The radiological abnormalities seen in the skeleton are distinctive. Symmetric osteoblastic lesions involving the medullary cavity of the long bones, particularly the diametaphyseal region, with relative sparing of the epiphysis are characteristic of Erdheim-Chester disease [2][3][4][5][6][7]. The bone disease is widespread with predilection for ankles, knees and wrists and is best recognized on an isotope bone scan.…”

“…Neurologic involvement is rare, the commonest manifestation being central diabetes insipidus [3]. Extraaxial and intra-axial central nervous system lesions have been described with a variety of focal neurologic signs [4][5][6][7]. Isolated spinal cord compression has rarely been described [3,6].…”

Characterizing Purkinje Cell Responses and Cerebellar Influence on Fluid Licking in the Mouse

“…Another possibility could be the direct influence of the cerebellum on thirst. This possibility is supported by case studies of abnormal thirst in patients with neurodegenerative diseases of the cerebellum (Fukazawa, Tsukishima, Sasaki, Hamada, & Tashiro, 1995) and functional imaging (Egan et al, 2003) and neurophysiological (Zhu & Wang, 2008) studies showing a cerebellar role in the consciousness of thirst. While more work is needed to define the exact neural mechanisms and pathways associated with cerebellar influence on fluid licking, this study provides evidence of a cerebellar representation of the activity of Purkinje cells and detectable alterations in the behavior in models of cerebellar dysfunction in support of the premise that the cerebellar cortex and deep cerebellar nuclei are neural substrates in the modulatory pathway responsible for rhythmic oromotor behavior.…”