caa a22 4500 606213996 CHVBK 20210128101050.0 cr unu---uuuuu 210128e20150901xx s 000 0 eng 10.1007/s00701-015-2514-5 doi (NATIONALLICENCE)springer-10.1007/s00701-015-2514-5 Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2T > G mutation of the PANK2 gene [Elektronische Daten] [Bahattin Tanrıkulu, Ali Özen, Dilek Günal, Dilşad Türkdoğan, Fatih Bayraklı, Yaşar Bayri, Adnan Dağçınar, Aşkın Şeker] Pantothenate kinase-associated neurodegeneration (PKAN) syndrome is an autosomal-recessive neurodegenerative disease that causes progressive generalized dystonia. Currently, the disorder remains pharmacologically intractable. Herein we report the first case in which deep brain stimulation helped to relieve dystonic storm in a patient with PKAN syndrome who had homozygous c.628 2T > G mutation of the PANK2 gene. A 10-year-old boy with PKAN disease presented with dystonic storm and was admitted to the emergency department. Examination revealed generalized dystonia and impaired breathing due to involvement of the respiratory muscles. The patient underwent surgery for bilateral globus pallidus internus deep brain stimulation. The patient showed marked response to treatment. Springer-Verlag Wien, 2015 Deep brain stimulation nationallicence Globus pallidus internus nationallicence Dystonia nationallicence PKAN nationallicence c.628 2T > G mutation nationallicence PANK 2 gene nationallicence Tanrıkulu Bahattin Department of Neurosurgery, Marmara University Pendik Research and Training Hospital, Fevzi Çakmak Mah. Muhsin Yazıcıoğlu Cad. No: 10, Üst Kaynarca/Pendik, Istanbul, Turkey aut Özen Ali Department of Neurosurgery, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basıbuyuk Yolu Sok. No:9/1, Maltepe, Istanbul, Turkey aut Günal Dilek Department of Neurology, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basıbuyuk Yolu Sok. No:9/1, Istanbul, Maltepe, Turkey aut Türkdoğan Dilşad Department of Pediatric Neurology, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basibuyuk Yolu Sok. No:9/1, Istanbul, Maltepe, Turkey aut Bayraklı Fatih Department of Neurosurgery, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basıbuyuk Yolu Sok. No:9/1, Maltepe, Istanbul, Turkey aut Bayri Yaşar Department of Neurosurgery, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basıbuyuk Yolu Sok. No:9/1, Maltepe, Istanbul, Turkey aut Dağçınar Adnan Department of Neurosurgery, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basıbuyuk Yolu Sok. No:9/1, Maltepe, Istanbul, Turkey aut Şeker Aşkın Department of Neurosurgery, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basıbuyuk Yolu Sok. No:9/1, Maltepe, Istanbul, Turkey aut Acta Neurochirurgica Springer Vienna 157/9(2015-09-01), 1513-1517 0001-6268 157:9<1513 2015 157 701 https://doi.org/10.1007/s00701-015-2514-5 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 brief-communication jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00701-015-2514-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Tanrıkulu Bahattin Department of Neurosurgery, Marmara University Pendik Research and Training Hospital, Fevzi Çakmak Mah. Muhsin Yazıcıoğlu Cad. No: 10, Üst Kaynarca/Pendik, Istanbul, Turkey aut NATIONALLICENCE 700 1- Özen Ali Department of Neurosurgery, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basıbuyuk Yolu Sok. No:9/1, Maltepe, Istanbul, Turkey aut NATIONALLICENCE 700 1- Günal Dilek Department of Neurology, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basıbuyuk Yolu Sok. No:9/1, Istanbul, Maltepe, Turkey aut NATIONALLICENCE 700 1- Türkdoğan Dilşad Department of Pediatric Neurology, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basibuyuk Yolu Sok. No:9/1, Istanbul, Maltepe, Turkey aut NATIONALLICENCE 700 1- Bayraklı Fatih Department of Neurosurgery, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basıbuyuk Yolu Sok. No:9/1, Maltepe, Istanbul, Turkey aut NATIONALLICENCE 700 1- Bayri Yaşar Department of Neurosurgery, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basıbuyuk Yolu Sok. No:9/1, Maltepe, Istanbul, Turkey aut NATIONALLICENCE 700 1- Dağçınar Adnan Department of Neurosurgery, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basıbuyuk Yolu Sok. No:9/1, Maltepe, Istanbul, Turkey aut NATIONALLICENCE 700 1- Şeker Aşkın Department of Neurosurgery, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basıbuyuk Yolu Sok. No:9/1, Maltepe, Istanbul, Turkey aut NATIONALLICENCE 773 0- Acta Neurochirurgica Springer Vienna 157/9(2015-09-01), 1513-1517 0001-6268 157:9<1513 2015 157 701