Introduction:

PKAN is neurodegenerative disorder characterized by abnormal iron accumulation in the brain, mostly attributed to mutations in the PANK2 gene. Affected patients develop progressive dystonia with death occurring in childhood/early adulthood. Bilateral globus pallidus internal stereotactic stimulation, by Deep Brain Stimulation(DBS) is used to alleviate dystonia. We present our experience with DBS,  in children with PKAN at a tertiary care center.

Methods:

Retrospective review from 2005-2018 revealed 15 genetically proven cases of PKAN, data was collected from 9/15 patients, six were lost to followup. 3/15 underwent DBS. Pre- and postoperative dystonia rating scales -Burke-Fahn-Marsden Dystonia Rating Scale, Disability Scale and Barry-Albright Dystonia Scale, were used.

Results:

8/9 had symptom onset between 1.5-3 years. 4/9 hailed from the Agrawal community and 2/9 from Gujarati community. 8/9 patients had homozygous mutation in Exon 1 of PANK2 gene.

3/9 underwent DBS surgery with no surgical complications.

-One, showed significant early & sustained improvement over 8 years

-One, showed good early, but limited late improvement after 9 years. -One, showed only minimal early & late improvement due to significant premorbid behavioral concerns.

Conclusion:

1. Our study reiterates that this disorder is frequently seen in Agrawal community, with exon 1 mutation, typical to Indian subcontinent.

2. DBS is a safe palliative option.

3. all showed improvement in quality of life, with limited benefit in functionality.

4. Parent compliance is paramount to success

5. Premorbid behavior concerns may prevent success in procedure.