- Email: [email protected]
Psychogenic dystonia or organic dystonia? About 2 DYT 1 cases
e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y 2 1 ( 2 0 1 7 ) e 1 7 8 ee 1 8 0
patient. Conclusion: DBS of the GPi has a well-known efficacy in DYT1, however recent studies as ours show that other primary or secondary dystonias may benefit as well from such interventions. Implantation in young children, however, poses a problem concerning the cumbersomeness long-term follow-up and need for regular re- interventions. The indications for implantation require in our opinion a multidisciplinary decision and to obtain the perfect adhesion of the family. A protocoled and rigorous follow-up of this population will improve both the selection criteria and suggest predictive parameters for better responders.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1110 OC136 Deep brain stimulation in controlling status dystonicus E. Nerrant, V. Gonzalez, C. Milesi, G. Cambonie, A. Boularan, I. De Antonio Rubio, F. Cyprien, E. Chan Seng, E. Sanrey, T. Roujeau, X. Vasques, P. Coubes, L. Cif. Department de Neurochirurgie, University of Montpellier, Montpellier, France Background: Status Dystonicus (SD) is a very severe, life threatening condition representing the culminating severity reached in different types of dystonia. Deep brain stimulation (DBS) has been reported in short series and case reports as being efficient. Objectives: To evaluate the specific contribution of DBS in dystonia patients who developed SD, to provide information on long term survival after DBS, and relationship between motor phenotype, severity, etiology, age at the time of DBS (children versus adults), imaging and, to provide information on long term survival after DBS. Population and Methods: All patients who developed SD previous or during follow-up under DBS have been included in the study. Motor phenotype of dystonia, severity, etiology, age at the time of DBS (children versus adults) and imaging were recorded. Results: Twenty-five patients developed a SD before surgical treatment by bilateral globus pallidus interna (GPi) DBS. SD occurred after a mean duration of disease of 8.5 years with a mean age of 15.7 years old. In 23 patients, SD occurred under GPi DBS treatment, mean duration of disease was 12.9 with a mean age of 18.7 years old. Progressive installation of SD was more frequent in pre-DBS SD than in per-DBS SD. In this subgroup, a failure of DBS therapy was responsible of 60% of SD. SD under DBS seemed to be more serious regarding hyperthermia, hepatic failure and rhabdomyolysis that were more frequent. DBS was effective in 92,8%. Eight patients died in follow-up, four of them in SD condition. Conclusion: Since GPi DBS is the most effective treatment in severe SD, it should be proposed earlier, as first line therapy, in prompt aggravation of generalized dystonia.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1111 OC137 Long-term clinical outcome of deep brain stimulation in PKAN syndrome Victoria Gonzalez, Laura Cif, Christophe Milesi, Gilles Cambonie, Isabelle de Antonio Rubio, Fabienne Cyprien, Emilie Chan seng, Thomas Roujeau, Philippe Coubes. Department of Neurosurgery, University Hospital of Montpellier, France Objective: To describe long-term clinical outcome of a series of patients suffering from PKAN syndrome treated with deep brain stimulation (DBS). PKAN syndrome is an autosomal recessive neurodegenerative disorder secondary to PANK2 gene mutations, manifesting by severe generalized dystonia and spasticity.
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Classical childhood-onset phenotype is often associated with fatal outcome. To date, several case reports have been published to describe the therapeutic outcome of globus pallidus internus (GPi) and more recently subthalamic nucleus DBS in PKAN syndrome. No pharmacological treatment has yet been approved to treat this condition. Methods: We conducted a retrospective systematic review of patients with documented diagnosis of PKAN syndrome treated with DBS in our center. Clinical outcome was measured with BFMDRS scale. All patients were implanted with MRI-guided targeting without microelectrode recordings. Results: We identified 18 patients in our database corresponding to inclusion criteria: 5 adults and 13 children (M:F ¼ 10:8). Age at surgery was 28.601 ± 7 years for adults and 11.9 ± 2.6 for children. All patients underwent GPI DBS; 5 patients were implanted with a second pair of leads during follow-up (thalamic Vim/Vop target (n ¼ 4) and STN (n ¼ 1)). Intrathecal baclofen pump was used to treat severe associated spasticity in 4 patients. Four patients required tube feeding due to severe dysphagia. Postoperative clinical management was complicated by several device-related adverse events: lead fracture, lead dysfunction (7 patients). Six patients developed status dystonicus. Five patients died despite intensive care unit management and advanced surgical therapies (2.8 ± 2 yr after surgery). Mean follow-up after surgery for the other patients was 10.9 ± 4.6 years. Conclusion: GPi DBS was effective in long-term treatment of severe dystonia in PKAN syndrome in our series (mean follow-up: 8.6 years). Classical childhood-onset of disease and severe GPi atrophy were associated with a more severe clinical condition with high prevalence of status dystonicus despite DBS therapy.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1112 OC138 Psychogenic dystonia or organic dystonia? About 2 DYT 1 cases N. Dorison, V. d'Hardemare, M. Vidailhet, M.L. Moutard, V. Desportes, P. Coubes, D. Doummar. Service de Neurochirurgie pediatrique, Fondation Ophtalmologique Rothschild, Paris, France Objective: Primary DYT 1 dystonia is an autosomal dominant disease, typically starting around 7e9 y/o at lower limbs and further generalised in 70 % cases. It is considered as a very good indication for Deep Brain Stimulation (DBS) of the GPi.Organic dystonia is sometimes difficult to diagnose and might mimic psychogenic dystonia. We present 2 cases to illustrate this difficulty and the utility to restore a good diagnostic. Methods: We present two girls with an initial diagnosis of “psychogenic abnormal movements”. The first began at 8 y/o, with a fluctuating lameness of the right lower limb and progressive loss of the walk by the next 6 months. The second patient presented at 11 y/o an abrupt walking and posture disturbances, bending of the trunk and impossibility to recover. Given the good resilience for a severe motor disorder in a particular familial context for the first patient (separation of parents, spastic diplegia in the father) and acute onset symptoms in the second patient, the diagnosis of abnormal psychogenic movements was made for both. Results: The diagnosis of organic dystonia was proposed after 3 years and several months of “psychological” follow-ups for the first and second patients, respectively. Definitive diagnosis was confirmed by demonstrating the Torsine A mutation. The two children underwent DBS-GPi with an 80% improvement of the dystonic features (videos). The father of the first patient was known to have the same mutation. The second had a baby whose genetic status is unknown. Conclusion: These two cases
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e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y 2 1 ( 2 0 1 7 ) e 1 7 8 ee 1 8 0
illustrate the difficulty in the diagnosis of paediatric dystonia, especially since the criteria for a psychogenic origin, called functional origin, were present. This diagnosis of psychogenic dystonia must remain a diagnosis of elimination as a more precise diagnosis of dystonia can propose effective therapeutic interventions.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1113 OC139 The Internal Globus Pallidus at 3.0 Tesla: Choice of optimal sequence and orientation for deep brain stimulation using a standard installation protocol V. d'Hardemare, D. Doummar, B. Pidoux, G. Dorfmuller, N. Dorison. Department of Pediatric Neurosurgery, A. de Rothschild Foundation, Paris, France Objective: Reliable visualization of the internal Globus Pallidus (GPi) is indispensable for accurate placement of electrodes in deep brain stimulation (DBS) surgery for children with dystonia. The aim of the study was to evaluate different 3.0 T MRI sequences for pre-stereotactic visualization of the GPi using a standard installation protocol. Methods: Six children were included in this study and MRI were acquired based on a 3.0 T protocole including T1-MPRAGE, T2-SPACE, FLAIR, Fast Gray
Matter Acquisition T1 Inversion Recovery (FGATIR), susceptibility-weighted imaging mapping (SWI) to delimitate the GPi before DBS. Inter-rater reliability, contrast-to-noise ratios (CNR) and signal-to-noise ratios (SNR) for the GPi were determined. Then, implantation of the DBS lead was performed using micro electrode recording to verify the quality of the targeting, and intraoperative test stimulation to determine thresholds for stimulation-induced adverse effects. Results: No major distorsiondistortion or artifacts was found in the sequences. The best visualization of the GPi was in axial and to a lesser degree on coronal FGATIR images. SWI offered a significantly higher CNR for the GPi. The FGATIR also revealed features not visible on other scan types: the internal lamina of the GPi, fiber bundles from the internal capsule piercing the striatum, and the boundaries of the STN. The micro recording confirms this reading of the MRI and the coordinates calculation. No trajectory error was detected and the clinical outcome was good. Conclusion: Using a standard installation protocol at 3.0T FGATIR and swi imaging (particularly axial view) provides optimal and reliable delineation of the GPi. By this way, we obtain a reproductible procedure of implantation and therefore, less variability in clinical outcomes.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1114
patient. Conclusion: DBS of the GPi has a well-known efficacy in DYT1, however recent studies as ours show that other primary or secondary dystonias may benefit as well from such interventions. Implantation in young children, however, poses a problem concerning the cumbersomeness long-term follow-up and need for regular re- interventions. The indications for implantation require in our opinion a multidisciplinary decision and to obtain the perfect adhesion of the family. A protocoled and rigorous follow-up of this population will improve both the selection criteria and suggest predictive parameters for better responders.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1110 OC136 Deep brain stimulation in controlling status dystonicus E. Nerrant, V. Gonzalez, C. Milesi, G. Cambonie, A. Boularan, I. De Antonio Rubio, F. Cyprien, E. Chan Seng, E. Sanrey, T. Roujeau, X. Vasques, P. Coubes, L. Cif. Department de Neurochirurgie, University of Montpellier, Montpellier, France Background: Status Dystonicus (SD) is a very severe, life threatening condition representing the culminating severity reached in different types of dystonia. Deep brain stimulation (DBS) has been reported in short series and case reports as being efficient. Objectives: To evaluate the specific contribution of DBS in dystonia patients who developed SD, to provide information on long term survival after DBS, and relationship between motor phenotype, severity, etiology, age at the time of DBS (children versus adults), imaging and, to provide information on long term survival after DBS. Population and Methods: All patients who developed SD previous or during follow-up under DBS have been included in the study. Motor phenotype of dystonia, severity, etiology, age at the time of DBS (children versus adults) and imaging were recorded. Results: Twenty-five patients developed a SD before surgical treatment by bilateral globus pallidus interna (GPi) DBS. SD occurred after a mean duration of disease of 8.5 years with a mean age of 15.7 years old. In 23 patients, SD occurred under GPi DBS treatment, mean duration of disease was 12.9 with a mean age of 18.7 years old. Progressive installation of SD was more frequent in pre-DBS SD than in per-DBS SD. In this subgroup, a failure of DBS therapy was responsible of 60% of SD. SD under DBS seemed to be more serious regarding hyperthermia, hepatic failure and rhabdomyolysis that were more frequent. DBS was effective in 92,8%. Eight patients died in follow-up, four of them in SD condition. Conclusion: Since GPi DBS is the most effective treatment in severe SD, it should be proposed earlier, as first line therapy, in prompt aggravation of generalized dystonia.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1111 OC137 Long-term clinical outcome of deep brain stimulation in PKAN syndrome Victoria Gonzalez, Laura Cif, Christophe Milesi, Gilles Cambonie, Isabelle de Antonio Rubio, Fabienne Cyprien, Emilie Chan seng, Thomas Roujeau, Philippe Coubes. Department of Neurosurgery, University Hospital of Montpellier, France Objective: To describe long-term clinical outcome of a series of patients suffering from PKAN syndrome treated with deep brain stimulation (DBS). PKAN syndrome is an autosomal recessive neurodegenerative disorder secondary to PANK2 gene mutations, manifesting by severe generalized dystonia and spasticity.
e179
Classical childhood-onset phenotype is often associated with fatal outcome. To date, several case reports have been published to describe the therapeutic outcome of globus pallidus internus (GPi) and more recently subthalamic nucleus DBS in PKAN syndrome. No pharmacological treatment has yet been approved to treat this condition. Methods: We conducted a retrospective systematic review of patients with documented diagnosis of PKAN syndrome treated with DBS in our center. Clinical outcome was measured with BFMDRS scale. All patients were implanted with MRI-guided targeting without microelectrode recordings. Results: We identified 18 patients in our database corresponding to inclusion criteria: 5 adults and 13 children (M:F ¼ 10:8). Age at surgery was 28.601 ± 7 years for adults and 11.9 ± 2.6 for children. All patients underwent GPI DBS; 5 patients were implanted with a second pair of leads during follow-up (thalamic Vim/Vop target (n ¼ 4) and STN (n ¼ 1)). Intrathecal baclofen pump was used to treat severe associated spasticity in 4 patients. Four patients required tube feeding due to severe dysphagia. Postoperative clinical management was complicated by several device-related adverse events: lead fracture, lead dysfunction (7 patients). Six patients developed status dystonicus. Five patients died despite intensive care unit management and advanced surgical therapies (2.8 ± 2 yr after surgery). Mean follow-up after surgery for the other patients was 10.9 ± 4.6 years. Conclusion: GPi DBS was effective in long-term treatment of severe dystonia in PKAN syndrome in our series (mean follow-up: 8.6 years). Classical childhood-onset of disease and severe GPi atrophy were associated with a more severe clinical condition with high prevalence of status dystonicus despite DBS therapy.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1112 OC138 Psychogenic dystonia or organic dystonia? About 2 DYT 1 cases N. Dorison, V. d'Hardemare, M. Vidailhet, M.L. Moutard, V. Desportes, P. Coubes, D. Doummar. Service de Neurochirurgie pediatrique, Fondation Ophtalmologique Rothschild, Paris, France Objective: Primary DYT 1 dystonia is an autosomal dominant disease, typically starting around 7e9 y/o at lower limbs and further generalised in 70 % cases. It is considered as a very good indication for Deep Brain Stimulation (DBS) of the GPi.Organic dystonia is sometimes difficult to diagnose and might mimic psychogenic dystonia. We present 2 cases to illustrate this difficulty and the utility to restore a good diagnostic. Methods: We present two girls with an initial diagnosis of “psychogenic abnormal movements”. The first began at 8 y/o, with a fluctuating lameness of the right lower limb and progressive loss of the walk by the next 6 months. The second patient presented at 11 y/o an abrupt walking and posture disturbances, bending of the trunk and impossibility to recover. Given the good resilience for a severe motor disorder in a particular familial context for the first patient (separation of parents, spastic diplegia in the father) and acute onset symptoms in the second patient, the diagnosis of abnormal psychogenic movements was made for both. Results: The diagnosis of organic dystonia was proposed after 3 years and several months of “psychological” follow-ups for the first and second patients, respectively. Definitive diagnosis was confirmed by demonstrating the Torsine A mutation. The two children underwent DBS-GPi with an 80% improvement of the dystonic features (videos). The father of the first patient was known to have the same mutation. The second had a baby whose genetic status is unknown. Conclusion: These two cases
e180
e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y 2 1 ( 2 0 1 7 ) e 1 7 8 ee 1 8 0
illustrate the difficulty in the diagnosis of paediatric dystonia, especially since the criteria for a psychogenic origin, called functional origin, were present. This diagnosis of psychogenic dystonia must remain a diagnosis of elimination as a more precise diagnosis of dystonia can propose effective therapeutic interventions.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1113 OC139 The Internal Globus Pallidus at 3.0 Tesla: Choice of optimal sequence and orientation for deep brain stimulation using a standard installation protocol V. d'Hardemare, D. Doummar, B. Pidoux, G. Dorfmuller, N. Dorison. Department of Pediatric Neurosurgery, A. de Rothschild Foundation, Paris, France Objective: Reliable visualization of the internal Globus Pallidus (GPi) is indispensable for accurate placement of electrodes in deep brain stimulation (DBS) surgery for children with dystonia. The aim of the study was to evaluate different 3.0 T MRI sequences for pre-stereotactic visualization of the GPi using a standard installation protocol. Methods: Six children were included in this study and MRI were acquired based on a 3.0 T protocole including T1-MPRAGE, T2-SPACE, FLAIR, Fast Gray
Matter Acquisition T1 Inversion Recovery (FGATIR), susceptibility-weighted imaging mapping (SWI) to delimitate the GPi before DBS. Inter-rater reliability, contrast-to-noise ratios (CNR) and signal-to-noise ratios (SNR) for the GPi were determined. Then, implantation of the DBS lead was performed using micro electrode recording to verify the quality of the targeting, and intraoperative test stimulation to determine thresholds for stimulation-induced adverse effects. Results: No major distorsiondistortion or artifacts was found in the sequences. The best visualization of the GPi was in axial and to a lesser degree on coronal FGATIR images. SWI offered a significantly higher CNR for the GPi. The FGATIR also revealed features not visible on other scan types: the internal lamina of the GPi, fiber bundles from the internal capsule piercing the striatum, and the boundaries of the STN. The micro recording confirms this reading of the MRI and the coordinates calculation. No trajectory error was detected and the clinical outcome was good. Conclusion: Using a standard installation protocol at 3.0T FGATIR and swi imaging (particularly axial view) provides optimal and reliable delineation of the GPi. By this way, we obtain a reproductible procedure of implantation and therefore, less variability in clinical outcomes.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1114