Objective: We present a case of a girl with Rett syndrome and impairing intermittent tremor involving the trunk and extremities managed with bilateral VIM/posterior subthalamic area deep brain stimulation (VIM/PSA-DBS) and provide accompanying video.

Background: Rett syndrome is an X-linked neurodevelopmental condition caused by mutations in the MECP2 gene and is the second most common genetic cause of intellectual disability in girls.  Girls with Rett syndrome often present with developmental regression, hand stereotypies, and epilepsy.  Movement disorders are common in Rett syndrome and include stereotypy, tremor, chorea, myoclonus, ataxia, dystonia, and parkinsonism. Aside from reports of deep brain stimulation in Rett mouse models, clinical application has not been described.

Method: A 5 year-old girl with Rett syndrome presented to our movement disorders clinic for evaluation of tremor.  Action tremor was first noted at approximately one year of life with gradual worsening.  Her tremor was large amplitude and intermittent in nature and involved the extremities as well as the trunk.  The tremor did not clearly interfere with tasks, but when severe would frighten the patient.  Treatment of tremor included benzodiazepines, carbidopa-levodopa, propranolol, and primidone; each was discontinued either due to insufficient benefit or intolerable side effects.

Results: At 9 years of age, deep brain stimulation was discussed due to inadequate control with pharmacotherapy. Bilateral VIM/PSA-DBS was implanted, and the patient had significant improvement in the intermittent tremor exacerbations per caregiver report. She was also noted by caregiver and occupational therapist to have increased willingness to use her hands, with more consistent reaching for objects and increased participation in therapies compared to prior to implantation.

Conclusion: Rett syndrome is a neurodevelopmental condition with numerous associated involuntary movements including stereotypy, tremor, chorea, myoclonus, ataxia, dystonia, and parkinsonism. Although this is a single case and no objective measures were used, our patient’s improved tremor control and reports of increased hand usage suggest there may be a role of DBS in the management of tremor and possibly other movement disorders associated with Rett syndrome.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/deep-brain-stimulation-for-the-management-of-tremor-in-a-child-with-rett-syndrome/