- The thirteen-year-old girl was born to healthy non-consanguineous parents, after normal pregnancy and delivery. The patient had a history of hypotonia during the first months of life, with torticollis and plagiocephaly. She had a global motor delay and delayed speech and language development. On examination, the patient showed macrocephaly, short stature, synophrys, long palpebral fissures, thin upper lip vermilion, low-set ears, short neck, cubitus valgus, pes planus and valgus and brachydactyly.
- Deep brain stimulation (DBS) has been proposed to treat disabling dystonic tremor (DT), but there is debate about the optimal target. DBS of the globus pallidus interna (GPi) may be insufficient to control tremor, and DBS of the ventral intermediate thalamic nucleus (VIM) may inadequately control dystonic features, raising the question of combining both targets.
- Dystonia is a movement disorder defined by “continuous or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both” . Deep brain stimulation of the globus pallidus interna (DBS-GPi) is used as treatment for patients with medication-refractory dystonia and has been shown to have long-term efficacy and safety . Recently, several patients with Parkinson's disease (PD) have been described who lost their ability to swim since they received subthalamic, thalamic or pallidal DBS.
- Deep brain stimulation (DBS) of the ventral intermedius thalamic nucleus (VIM) is an established treatment for essential tremor (ET) . Stimulation-related improvement is thought to be caused by stimulation of small axons within the target whereas side effects are caused by stimulation of large, more distant, fibers .
- We read with interest the paper by Pauls et al. who reported causes of failure for globus pallidus internus (GPi) deep brain stimulation (DBS) in patients with isolated dystonia . Whether patient selection for GPi DBS should be based on dystonia phenomenology or etiology is currently debated. There is evidence that isolated dystonia syndromes respond to DBS and also that mutations in some genes, such as DYT1, are associated with positive outcome. Pauls et al. reviewed patients with a diagnosis of isolated dystonia at time of implant and reported that, in 11 of them (about 50%), the cause of failure was the observation of a phenomenology exceeding isolated dystonia (on average 24 months after implant).
- Several case reports and small series have indicated that tardive dystonia is responsive to globus pallidus deep brain stimulation. Whether different subtypes or distributions of tardive dystonia are associated with different outcomes remains unknown.
- Deep brain stimulation (DBS) of PPN has been suggested for Parkinson's disease (PD) patients with severe axial impairment  and a slight effect on gait and balance has been shown . Shih et al. described the beneficial effect of DBS of the PPN contralateral to the most affected side in a PD patient with Pisa syndrome (PS) , a postural disorder clinically defined as the sustained lateral bending of the trunk . Here we report the long-term follow-up of a PD patient who underwent PPN DBS for the management of PS.
- Previous case series suggested a link between Klinefelter syndrome (KS) and essential tremor (ET) or an ET-like syndrome.