Objective: We present two patients with Rett syndrome who underwent deep brain stimulation (DBS) for management of action tremor and rigidity. Video segments of the patients are provided.

Background: Rett syndrome is an X-linked neurodevelopmental condition caused by mutations in the MECP2 gene characterized by developmental regression, hand stereotypies, and epilepsy. Movement disorders are common and include stereotypy, tremor, chorea, myoclonus, ataxia, dystonia, and parkinsonism. Mouse models of Rett syndrome have been reported to restore neurological function and improve learning and memory, although clinical applications in Rett have not been described.

Method: The first patient is a 5-year-old girl with Rett syndrome presenting with tremor. Action tremor was first noted at approximately one year of life with gradual worsening. Tremor was large amplitude and intermittent in nature involving the extremities and 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. The second patient is a 26-year-old woman with Rett syndrome presenting with rigidity. She was noted to have generalized stiffness since at least 16 years of age, keeping legs stiff and extended without any fluctuation. She was noted to have 4+ rigidity throughout, mild spasticity, and contracture of hip adductors. Treatment included carbidopa-levodopa, clonazepam, botulinum neurotoxin injections, and intrathecal baclofen pump all with insufficient benefit.

Results: The first patient underwent bilateral VIM/PSA-DBS was implantation and had significant improvement in the intermittent tremor exacerbations per caregiver report. She was also noted to have more use of her hands and increased participation in therapies. The second patient underwent bilateral STN and GPi-DBS with improvement in rigidity as she was able to bend her knees more often allowing for ease of daily cares.

Conclusion: Although this is a small, observational series and no objective measures were used, both patients’ caregivers reported meaningful benefit with DBS in treatment of rigidity and tremor in Rett syndrome. This suggests that there may be a role of DBS in the management of tremor and rigidity (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-movement-disorders-in-rett-syndrome/