Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration

Eur J Paediatr Neurol. 2009 Jan;13(1):61-4. doi: 10.1016/j.ejpn.2008.01.006. Epub 2008 May 6.

Abstract

We report a case of a young girl with early onset pantothenate kinase-kssociated neurodegeneration (PKAN) whose initial clinical manifestation was ataxia at the age of 2.5 years. Subsequently the patient presented to us with refractory severe dystonia resulting in essentially complete loss of motor control. She had a mutation in PANK2 gene consisting of an aminoacid change of Alanine to Valine in exon 5 (A382V). After Globus Pallidus deep brain stimulation (DBS) at the age of 11 years, the patient regained useful motor function and speech with a marked decrease in the severity of the dystonia. The patient's condition gradually returned to her pre-DBS status when the device had to be removed 3 months later due to infection. Our case is the sixth case with classical PKAN that was treated by Globus Pallidus stimulation, the fifth one to have a favorable response to it and the only one in whom response was proven by the inadvertent removal of the DBS device due to infection. In addition, our case had a novel mutation and novel clinical features (onset with ataxia, occurrence of early seizure activity) on top of her other symptoms that were otherwise typical of early onset disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxia / etiology
  • Ataxia / physiopathology
  • Ataxia / therapy
  • Child
  • Deep Brain Stimulation / methods*
  • Dystonia / etiology
  • Dystonia / physiopathology
  • Dystonia / therapy
  • Female
  • Humans
  • Motor Skills / physiology
  • Mutation, Missense
  • Pantothenate Kinase-Associated Neurodegeneration / complications
  • Pantothenate Kinase-Associated Neurodegeneration / genetics
  • Pantothenate Kinase-Associated Neurodegeneration / therapy*
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Speech / physiology
  • Treatment Outcome

Substances

  • Phosphotransferases (Alcohol Group Acceptor)
  • pantothenate kinase