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: Bahattin Tanrıkulu, Ali Özen, Dilek Ince Günal, Dilşad Türkdoğan, Fatih Bayraklı, Yaşar Bayri, Adnan Dağçınar, Aşkın Şeker
• Journal: Acta neurochirurgica (Acta Neurochir (Wien)) Vol. 157 Issue 9 Pg. 1513-6; discussion 1516-7 (Sep 2015) ISSN: 0942-0940 [Electronic] Austria
• PMID: 26223911 (Publication Type: Case Reports, Journal Article)

Chemical References

• Phosphotransferases (Alcohol Group Acceptor)
• pantothenate kinase

Topics

• Child
• Deep Brain Stimulation
• Humans
• Male
• Mutation, Missense
• Pantothenate Kinase-Associated Neurodegeneration (genetics, therapy)
• Phosphotransferases (Alcohol Group Acceptor) (genetics)
• Syndrome