title: Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T > G mutation of the PANK2 gene.
abstract: 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 2 T > 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.
authors.affiliation: Department of Neurosurgery, Marmara University Pendik Research and Training Hospital, Fevzi Çakmak Mah. Muhsin Yazıcıoğlu Cad. No: 10, Üst Kaynarca/Pendik, Istanbul, Turkey.
authors.forename: Bahattin
authors.initials: B
authors.lastname: Tanrıkulu
authors.forename: Ali
authors.initials: A
authors.lastname: Özen
authors.forename: Dilek Ince
authors.initials: DI
authors.lastname: Günal
authors.forename: Dilşad
authors.initials: D
authors.lastname: Türkdoğan
authors.forename: Fatih
authors.initials: F
authors.lastname: Bayraklı
authors.forename: Yaşar
authors.initials: Y
authors.lastname: Bayri
authors.forename: Adnan
authors.initials: A
authors.lastname: Dağçınar
authors.forename: Aşkın
authors.initials: A
authors.lastname: Şeker
mesh_terms: D002648:Child; D046690:Deep Brain Stimulation; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics / Q000628:therapy*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D013577:Syndrome
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase