Objective To describe an adult patient with Rasmussen’s disease with focal dystonia as the most disabling symptom and the good response to unilateral globus pallidus internus (GPi) deep brain stimulation (DBS).
Methods Retrospective review of clinical records and diagnostic tests.
Results The patient had displayedmild focal seizures with sensory and motor symptoms on the left arm and hemiface since the age of 22. Ten years later she experienced abrupt onset of focal left dystonia involving mainly the leg. Brain MRI showed progressive right hemisphere atrophy, and 18 fluorodeoxyglucose-positron emission tomography (18FDG-PET) showed right hypometabolism mainly over the frontal and insular regions. Brain biopsy confirmed chronic encephalitis. The dystonia became very severe and made walking extremely difficult. Different treatments including dopaminergic, anticholinergic, immunomodulatory drugs and botulinum toxin were ineffective. Finally the patient was treated with unilateral GPi DBS. Shortly after the onset of the stimulation, the dystonia started to improve. Parameters have been adjusted, and 18 months after surgery the patient is able to walk and run unaided, although a mild left leg dystonia persists.
Conclusion Rasmussen’s disease may be difficult to diagnose in adult patients. Associated movement disorders may be more disabling than seizures. Focal dystonia may be treated successfully with DBS.
- autoimmune encephalitis
- electrical stimulation
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Contributors MC wrote and submitted the paper. MJM, FV, JV-S, CP and EM provided help with the assessment and treatment of the dystonia and wrote the corresponding part of the paper. IA analysed the pathological sample and provided the images. EC and FG formatted the images and helped with the submission. NB interpreted and provided the MRI and the caption. XS interpreted and provided the PET images and the caption. IM helped to film the patient and get the informed consent. AD, TB, LP and EB contributed to the clinical management of the patient and provided input on the initial manuscript and the revised one. PR and JR performed the operation and wrote the surgical part in the initial manuscript and the revised one.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests MC has received honoraria from Eisai, UCB Pharma, Esteve, Bial pharmaceuticals and Medtronic for teaching activities and advisory boards. JR has received honorarium from Medtronic for teaching activities.
Patient consent Obtained.
Ethics approval This is not a clinical trial. This is a case report and the patient was treated according to the usual clinical practice. Permission was obtained from the patient to have access to her clinical records, write the manuscript and use her videos.
Provenance and peer review Not commissioned; externally peer reviewed.
Data sharing statement Video recordings before and after pallidal stimulation are available for review.