title: Staged bilateral stereotactic pallidothalamotomy for life-threatening dystonia in a child with Hallervorden-Spatz disease.
abstract: 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 pallidothalamotomy was performed. Postoperatively, Burke-Fahn-Marsden Dystonia Rating Scale and Dystonia Disability Rating Scale improved (from 116 and 30 points to 41 and 18 points, respectively) and painful dystonia was resolved, which was still continuous 4 years later (47 and 20 points). Stereotactic staged bilateral pallidothalamotomy should be considered as a potential treatment in the management of life-threatening generalized dystonia related to HSD.
authors.affiliation: Department of Neurosurgery, University of Pecs, Pecs, Hungary. istvan.balas@aok.pte.hu
authors.forename: Istvan
authors.initials: I
authors.lastname: Balas
authors.forename: Norbert
authors.initials: N
authors.lastname: Kovacs
authors.forename: Katalin
authors.initials: K
authors.lastname: Hollody
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D001479:Basal Ganglia / Q000473:pathology / Q000503:physiopathology / Q000601:surgery; D001991:Bronchitis / Q000209:etiology / Q000517:prevention & control; D046690:Deep Brain Stimulation; D004292:Dominance, Cerebral / Q000502:physiology*; D004417:Dyspnea / Q000209:etiology / Q000517:prevention & control; D005264:Femoral Fractures / Q000209:etiology / Q000517:prevention & control; D005500:Follow-Up Studies; D005598:Fractures, Spontaneous / Q000209:etiology / Q000517:prevention & control; D005917:Globus Pallidus / Q000473:pathology / Q000503:physiopathology / Q000601:surgery*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D009474:Neurons / Q000502:physiology; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis / Q000503:physiopathology / Q000601:surgery*; D012086:Reoperation; D013238:Stereotaxic Techniques; D014140:Tracheotomy; D020651:Ventral Thalamic Nuclei / Q000473:pathology / Q000503:physiopathology / Q000601:surgery*