British Society for Stereotactic and Functional Neurosurgery, Cambridge 23 and 24 May 2019 Abstracts

摘要

Introduction: Lesch-Nyhan disease (LND) is an X-linked hereditary disorder caused by a deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase. Patients present with hyperuricaemia, intellectual difficulties, self-injurious behaviour and movement disorders such as dystonia and spasticity. Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is reported to be beneficial for control of dystonia and self-injurious behaviour. We describe our case series of four patients who had bilateral GPi stimulation for LND. Methods: Prospectively collected data on demographics, clinical outcomes, outcome measures (Burke-Fahn-Marsden Dystonia Rating Scale [BFMDRS] and Behavioural Problems Inventory [BPI]) and complications were analysed. Results: Four male patients between the ages of 11 to 16 years had DBS implantation between the years 2011 and 2018. The target chosen was the GPi nucleus, and in all but one patient, a total of 4 electrodes were inserted into the anterior limbic and posterior motor parts of the GPi. Two patients had infected implants requiring a period of explantation and antibiotics followed by reimplantation. Improvements in both dystonic symptoms and self-injurious behaviour were achieved with stimulation as evidenced by stable BFMDRS scores and decrease in BPI scores in the self-injury and aggressive/destructive behaviours sub-categories. Conclusion: LND is a challenging condition to treat. Surgical treatment helps control dystonia and self-injurious behaviour, resulting in better care, comfort and quality of life for patient and carers.