BACKGROUND AND IMPORTANCE: Chorea acanthocytosis is a progressive hereditary neurodegenerative disorder characterized by hyperkinetic movements, seizures, and acanthocytosis in the absence of any lipid abnormality. Medical treatment is typically limited and disappointing. CLINICAL PRESENTATION: We report on a 32-year-old patient with chorea acanthocytosis with a failed attempt at awake deep brain stimulation (DBS) surgery due to intraoperative seizures and postoperative intracranial hematoma. He then underwent a second DBS operation, but under general anesthesia and with intraoperative magnetic resonance imaging guidance. Marked improvement in his dystonia, chorea, and overall quality of life was noted 2 and 8 months postoperatively. CONCLUSION: DBS surgery of the bilateral globus pallidus pars interna may be useful in controlling the hyperkinetic movements in neuroacanthocytosis. Because of the high propensity for seizures in this disorder, DBS performed under general anesthesia, with intraoperative magnetic resonance imaging guidance, may allow successful implantation while maintaining accurate target localization.
BACKGROUND AND IMPORTANCE: Chorea acanthocytosis is a progressive hereditary neurodegenerative disorder characterized by hyperkinetic movements, seizures, and acanthocytosis in the absence of any lipid abnormality. Medical treatment is typically limited and disappointing. CLINICAL PRESENTATION: We report on a 32-year-old patient with chorea acanthocytosis with a failed attempt at awake deep brain stimulation (DBS) surgery due to intraoperative seizures and postoperative intracranial hematoma. He then underwent a second DBS operation, but under general anesthesia and with intraoperative magnetic resonance imaging guidance. Marked improvement in his dystonia, chorea, and overall quality of life was noted 2 and 8 months postoperatively. CONCLUSION: DBS surgery of the bilateral globus pallidus pars interna may be useful in controlling the hyperkinetic movements in neuroacanthocytosis. Because of the high propensity for seizures in this disorder, DBS performed under general anesthesia, with intraoperative magnetic resonance imaging guidance, may allow successful implantation while maintaining accurate target localization.
Authors: Jessica Cooperrider; Havan Furmaga; Ela Plow; Hyun-Joo Park; Zhihong Chen; Grahame Kidd; Kenneth B Baker; John T Gale; Andre G Machado Journal: J Neurosci Date: 2014-07-02 Impact factor: 6.167
Authors: Marie Miquel; Umberto Spampinato; Chrystelle Latxague; Iciar Aviles-Olmos; Benedikt Bader; Kelly Bertram; Kailash Bhatia; Pierre Burbaud; Lothar Burghaus; Jin Whan Cho; Emmanuel Cuny; Adrian Danek; Thomas Foltynie; Pedro J Garcia Ruiz; Santiago Giménez-Roldán; Dominique Guehl; Jorge Guridi; Marwan Hariz; Paul Jarman; Zinovia Maria Kefalopoulou; Patricia Limousin; Nir Lipsman; Andres M Lozano; Elena Moro; Dhita Ngy; Maria Cruz Rodriguez-Oroz; Huifang Shang; Hyeeun Shin; Ruth H Walker; Fusako Yokochi; Ludvic Zrinzo; François Tison Journal: PLoS One Date: 2013-11-05 Impact factor: 3.240