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Erdheim-Chester disease and slowly progressive cerebellar dysfunction
T Fukazawa1, E Tsukishima, H Sasaki
1Hokuyukai Neurology Hospital, Sapporo, Japan.
Journal of Neurology, Neurosurgery, and Psychiatry
|February 1, 1995
Summary
Erdheim-Chester disease, a rare disorder, can present with diabetes insipidus and progressive cerebellar symptoms. Brain MRI may reveal characteristic hyperintensities in deep cerebellar nuclei, warranting skeletal surveys for unexplained neurological deficits.
Area of Science:
- Neurology
- Oncology
- Radiology
Background:
- Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis characterized by lipid-laden macrophages (foam cells) infiltrating various organs.
- Cerebellar syndromes and diabetes insipidus are uncommon presenting manifestations of Erdheim-Chester disease.
Observation:
- A 59-year-old woman presented with pronounced thirst, polydipsia, polyuria, and slowly progressive cerebellar symptoms.
- Brain MRI revealed T2-weighted hyperintensities in the dentate nuclei bilaterally, without cerebellar or brainstem atrophy.
- A bone scan demonstrated lesions in the distal femurs and proximal/distal tibias.
Findings:
- A bone biopsy confirmed Erdheim-Chester disease.
- This case represents the first documented instance of Erdheim-Chester disease manifesting with a slowly progressive cerebellar syndrome and diabetes insipidus.
- The presence of high signal lesions in the deep cerebellar nuclei on MRI is a notable finding in this patient.
Implications:
- Erdheim-Chester disease should be considered in the differential diagnosis of patients presenting with unexplained slowly progressive cerebellar symptoms and diabetes insipidus.
- Skeletal surveys are recommended for patients with these unexplained neurological symptoms to identify potential bone lesions indicative of Erdheim-Chester disease.
- Advanced neuroimaging, particularly MRI, plays a crucial role in identifying characteristic lesions in the deep cerebellar nuclei associated with this rare condition.