This is a preprint of an article published in Movement Disorders Vol

ABSTARCT Hallervorden-Spatz disease (HSD) is a rare disorder characterized by progressive motor dysfunction and dementia. Dystonia is the most prominent and disabling symptom responding only to a modest extent to pharmacological therapy. At the moment only a few cases have been reported to improve dystonia and even fewer to resolve status dystonicus for a longer period in children. The authors present the case of a 10-year-old boy who had progressive generalized dystonia resulting in spontaneous femur fracture and life-threatening swallowing and respiratory disability. As a rescue solution staged bilateral pallido-thalamotomy was performed. Postoperatively, Burke-Fahn-Marsden Dystonia and Disability Rating Scales improved (from 116 and 30 points to 41 and 18 points) and painful dystonia was resolved, which was still continuous 4 years later (47 and 20 points). Stereotactic staged bilateral pallido-thalamotomy should be considered as a potential treatment in the management of life-threatening generalized dystonia related to HSD. VIM=ventral intermedial nucleus of thalamus. INTRODUCTION HSD is a rare, autosomal recessive disorder characterized by progressive motor symptoms and dementia affecting mainly children. Diagnosis is based on clinical symptoms and MR imaging 1, 2. Pharmacological therapy has a limited efficiency and the disease progresses to severe disability and death. However, ablation and DBS implantation have been reported to provide some measure of dystonia reduction 3-5 , but the results are sometimes conflicting 6. We present the case of a child who had severe, generalized dystonia refractory to pharmacological treatments. Staged bilateral pallido-thalamotomy was considered when the disease resulted in life-threatening status dystonicus. History The 10-year-old boy was born from the first gravidity of unrelated parents. The pregnancy was uncomplicated; the delivery was spontaneous, at term. His perinatal adaptation and motor development were normal. At the age of 5 his parents noticed progressive gait disturbances and difficulty in speech. Physical examination revealed generalized dystonia, dysarthria and retinitis pigmentosa. Laboratory tests were in the normal range including copper level and coeruloplasmin. Arylsulphatase, beta-hexoseaminidase, beta-galactosidase, and CSF protein turned to be normal, as well. Brain MRI revealed decreased signal intensity in both basal ganglia and small areas of hyperintensity in their internal segments on T2 weighted images (" eye of the tiger " sign) 7. (Figure 1) The diagnosis of HSD was established 1 , however, genetic background was not proved. Several pharmacological therapies to reduce the dystonia were