Summary
Neurodegeneration associated with pantothenate kinase deficiency is an autosomal recessive condition caused by mutations in the pantothenate kinase 2 gene (PANK2). Clinical characteristics include progressive motor impairment and dementia. Medical treatment is limited and the dystonia tends to be refractory, making stereotactic surgery with placement of deep-brain electrodes an option that is being adopted with greater frequency in these patients.
Anesthesia considerations for deep-brain stimulation in a patient with type-2 pantothenate kinase deficiency (Hallervorden-Spatz disease)
 
  Key words
 
 
  
   Human PANK2 protein
  
 
 
  
   Dystonia
  
 
 
  
   Stereotactic surgery
  
 
 
  
   General anesthesia
  
 
Summary
Neurodegeneration associated with pantothenate kinase deficiency is an autosomal recessive condition caused by mutations in the pantothenate kinase 2 gene (PANK2).
Clinical characteristics include <dis>progressive motor impairment</dis> and <dis>dementia</dis>.
Medical treatment is limited and the dystonia tends to be refractory, making stereotactic surgery with placement of deep-brain electrodes an option that is being adopted with greater frequency in these patients.
We report the case of a 32-year-old woman with severe dystonia associated with PANK2 protein deficiency.
The patient was scheduled for stereotactic bilateral placement of electrodes in the medial globus pallidus, guided by computed tomography and under general anesthesia, to treat the debilitating dystonia and generalized stiffness associated with her condition.
Anesthesia was maintained with propofol, rocuronium and remifentanil in perfusion during the intervention, which was uneventful.
After the procedure, the patient was transferred to the intensive care unit and sedation was provided with remifentanil to allow slow, gradual emergence from anesthesia.
The patient was discharged from hospital after placement of the implanted pulse generator, and subsequent follow-up showed improvement of the dystonia.

Summary
Neurodegeneration associated with pantothenate kinase deficiency is an autosomal recessive condition caused by mutations in the pantothenate kinase 2 gene (PANK2).
Clinical characteristics include progressive motor impairment and dementia.
Medical treatment is limited and the dystonia tends to be refractory, making stereotactic surgery with placement of deep-brain electrodes an option that is being adopted with greater frequency in these patients.
We report the case of a 32-year-old woman with severe dystonia associated with PANK2 protein deficiency.
The patient was scheduled for stereotactic bilateral placement of electrodes in the medial globus pallidus, guided by computed tomography and under general anesthesia, to treat the debilitating dystonia and generalized stiffness associated with her condition.
Anesthesia was maintained with propofol, rocuronium and remifentanil in perfusion during the intervention, which was uneventful.
After the procedure, the patient was transferred to the intensive care unit and sedation was provided with remifentanil to allow slow, gradual emergence from anesthesia.
The patient was discharged from hospital after placement of the implanted pulse generator, and subsequent follow-up showed improvement of the dystonia.

Summary
Neurodegeneration associated with pantothenate kinase deficiency is an autosomal recessive condition caused by mutations in the pantothenate kinase 2 gene (PANK2). Clinical characteristics include <dis>progressive motor impairment</dis> and <dis>dementia</dis>. Medical treatment is limited and the dystonia tends to be refractory, making stereotactic surgery with placement of deep-brain electrodes an option that is being adopted with greater frequency in these patients.
progressive motor impairment
DISABILITY
dementia
DISABILITY