Objective: to describe clinical and radiological findings, and disease progression in a patient with Erdheim-Chester disease (ECD) initially presenting with chorea.

Background: ECD is a rare myeloid neoplasm characterized by xanthogranulomatous infiltration of histiocytes (CD68+/CD1-) of any organ, dominantly bone, retroperitoneum and brain. Neurological complication usually include ataxia, brain masses and reduced cerebral volume. This patient’s initially presented with chorea, cognitive impairment and ataxia, and then dysarthria, dys phagia and flaccid paraplegia appeared.

Method: A 68-year-old Caucasian man had a 3-year history of chorea, imbalance, impulsivity and cognitive decline. On examination, two years late, there was a severe flaccid paraparesis, dysarthria, dysphagia and “Cogan lid”. He was started on haloperidol 2.5 mg/daily two years ago. Laboratory investigation showed hypoalbuminaemia, while CSF paraprotein and antibodies were not detected.

Results: Brain MRI showed T2/FLAIR hyperintensity of the pons, middle cerebellar peduncles and vermis, without DWI signal restriction, and mild diffuse cortical atrophy. CT scan revealed perirenal and peri-aortic infiltration. Bone scintigraphy showed foci of increased uptake in the distal metadiaphysis of femurs and tibias and the same changes were visible on CT of the upper legs. A bone biopsy confirmed the diagnosis of ECD. This pateint was negative for BRAFv600E mutation and Huntington disease. Despite reduction in brain lesion, there was minimal improvement after treatment with corticosteroids and immunoglobulins after four months.

Conclusion: Although cerebellar and pyramidal symptoms are the main neurological manifestations, chorea can be presenting symptom of ECD. Brain involvement may not fully correlate with deficit, which may be a consequence of an additional neurodegenerative process, which could explain the lack of response to therapy.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/chorea-as-the-initial-presentation-of-erdheim-chester-disease/