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Neuropediatrics
DOI: 10.1055/s-0044-1785513
Videos and Images in Neuropediatrics

Deep Brain Stimulation in a 10-Year-Old Child with Pantothenate Kinase-associated Neurodegeneration

Natasa Nenadic-Baranasic
1   Division of Pediatric Neurology, Department of Paediatrics, University Hospital Centre Zagreb, Zagreb, Croatia
,
Jakob Nemir
2   Division of Stereotactic, Functional amd Radio Neurosurgery, Department of Neurosurgery, University Hospital Centre Zagreb, Zagreb, Croatia
,
Fran Borovecki
3   Division of Neurodegenerative Diseases and Neurogenomics, Department of Neurology, University Hospital Centre Zagreb, Zagreb, Croatia
,
Niko Njiric
2   Division of Stereotactic, Functional amd Radio Neurosurgery, Department of Neurosurgery, University Hospital Centre Zagreb, Zagreb, Croatia
,
Ivan Lehman
1   Division of Pediatric Neurology, Department of Paediatrics, University Hospital Centre Zagreb, Zagreb, Croatia
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We present a 10-year-old girl of unrelated healthy parents, that presented at the age of 9 with progressive dystonia, spasticity, and dysarthria ([Video 1—Parts 1] and 2). The initial Burke–Fahn–Marsden Dystonia Scale (BFMDS) score was 33/120, and the Dystonia Disability Scale (DDS) score was 14 to 15/30. Brain MRI showed neuroradiological sign of “tiger's eye” ([Video 1—Part 3]). Molecular genetic analysis showed compound pathogenic heterozygote mutation of PANK2 gene: c.1213T > G, p.(Tyr405Asp) and c.1583C > T, p.(Thr528Met), which confirmed neurodegeneration with brain iron accumulation subtype pantothenate kinase-associated neurodegeneration (PKAN).[1] Despite pharmacotherapy with clonazepam, baclofen, and trihexyphenidyl,[2] disease progressed to BFMDS score 48.4/120 and DDS score 14 to 16/30. Deep brain stimulation (DBS) electrodes were implanted in internal parts of both globi pallidi (GPi). Three and 6 months later, the patient had BFMDS score of 27/120 (44% improvement) and DDS score of 11/30 (31% improvement; [Video 1—Parts 4–6]).

Video 1 A 10-year-old child with dystonia before DBS electrodes implantation (arms and hands mostly affected; Part 1), which made it impossible for her to feed, dress, and write independently (Parts 1 and 2). Brain MRI showed specific neuroradiological “tiger's eye” sign, typical for neurodegeneration with brain iron accumulation in both globi pallidi (Part 3). On the follow-up 3 and 6 months after onset of DBS, the patient showed more stable gait (Part 4), less pronounced arm dystonic movements (Part 5), and improved function of her right hand (Part 6). DBS, deep brain stimulation.


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Implantation of DBS electrodes in GPi in PKAN patients with typical and rapidly progressive disease form, should be considered early in the disease course—before the appearance of contractures and before dystonic status.[3] [4]



Publication History

Received: 11 December 2023

Accepted: 11 March 2024

Article published online:
09 April 2024

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  • References

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