Segar, d.J., chodakiewitz, y.G., torabi, r., cosgrove, g.R.Deep brain stimulation for the obsessive-compulsive and tourette-like symptoms of kleefstra syndrome.Neurosurgical focus.2015; 38(6):e12.Doi: 10.3171/2015.3.Focus1528 summary: deep brain stimulation (dbs) has been reported to have beneficial effects in severe, treatment-refractory cases of obsessiv e-compulsive disorder (ocd) and tourette syndrome (ts).In this report, the authors present the first case in which dbs was used to treat the neuropsychiatric symptoms of kleefstra syndrome, a rare genetic disorder characterized by childhood hypotonia, intellectual disability, distinctive facial features, and myriad psychiatric and behavioral disturbances.A (b)(6) female patient with childhood hypotonia, developmental delay, and diagnoses of autism spectrum disorder, ocd, and ts refractory to medical management underwent the placement of bilateral ventral capsule/ventral striatum (vc/vs) dbs leads, with clinical improvement.Medical providers and family observed gradual and progressive improvement in the patient¿s compulsive behaviors, coprolalia, speech, and social interaction.Symptoms recurred when both dbs electrodes failed because of lead fracture and dislodgement, although the clinical benefits were restored by lead replacement.The symptomatic and functional improvements observed in this case of vc/vs dbs for kleefstra syndrome suggest a novel indication for dbs worthy of further investigation.Reported event one (b)(6) female patient underwent bilateral ventral capsule/ventral striatum (vc/vs) deep brain stimulation (dbs) implant to treat disabling obsessive-compulsive disorder (ocd) and tourette syndrome (ts), which were due to kleefstra syndrome.Correct implantation was confirmed using postoperative ct studies merged with preoperative mri.After implantation, the patient demonstrated gradual and progressive improvement in her obsessive-compulsive behaviors, coprolalia, speech, and social interaction over 3-9 months.Her global assessment of functioning (gaf) scores improved steadily during this time, jumping to 30-40 shortly after implantation and increasing to 50-60 after nine months.She then began to gradually regress clinically over several months with noted worsening of symptoms.Imaging revealed the left lead had fractured and the right lead had withdrawn from the target.The reporter stated that it was likely that both of these events resulted from inadequate anchoring of the connectors, which caused downward migration from their initial positions on the patient¿s skull.By this time, her gaf score had returned to a baseline of 20.Both leads were subsequently explanted.Because medical providers, teachers, caregivers, and family corroborated that dbs had dramatically improved the patient¿s function, the leads were replaced in their original locations in the vc/vs.Implantation was again confirmed with postoperative ct studies merged with preoperative mri.Following lead replacement, the patient once again began to experience substantial improvement, with a similar increase in gaf scores to between 50 and 60.She became more communicative and interactive at school, an improvement that was noted by clinicians, family members, teachers, other parents, and students.She became significantly more interactive and motivated during daily activities and even participated in special olympics bowling.Care providers also noted a significant reduction in her anxiety, compulsive behaviors, coprolalia, and vocal tics.Her hyperphagic tendencies also decreased, contributing to a nearly 20-kg weight loss.Despite the observation that some patients with kleefstra syndrome demonstrate a regressive course with worsening motor and neurobehavioral symptoms over time, the patient continued to function substantially above her baseline level more than three years after replacement of the dbs leads.A considerable reduction in ocd behaviors allowed for substantial qualitative benefits to the patient and her family.The source literature included the following device specifics: lead model 3389 further information has been requested; a supplemental report will be submitted if additional information is received.
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