BILATERAL PALLIDOTOMY IN REFRACTORY DYSTONIC STATUS SECONDARY TO NEURODEGENERATIVE DISEASE ASSOCIATED WITH PANTOTHENATE KINASE: A CASE REPORT

PALIDOTOMÍA BILATERAL EN ESTADO DISTÓNICO REFRACTARIO SECUNDARIO A ENFERMEDAD NEURODEGENERATIVA ASOCIADA A PANTOTENATO QUINASA: REPORTE DE UN CASO

Resumen

Introduction: Dystonic status is characterized by sustained and continuously dystonic movements that significantly impact the quality of life of the patients.Clinical Case: We present a 6-year-old child with four days of inability to walk, diaphoresis, and generalized dystonic movements predominantly in the lower limbs. The clinical, laboratory, and radiological findings were consistent with the diagnosis of pantothenate kinase enzyme deficiency associated neurodegeneration with refractory dystonic status.Conservative management with benzodiazepines, baclofen, and antidopaminergic drugs as well as intrathecal baclofen infusion pump were offered, but neither of them achieved a satisfactory response, finally requiring a bilateral pallidotomy. After two years, the patient did not developed any new episodes of dystonic status, without systemic or neurological adverse effects.Conclusion: Refractory dystonic status is a devastating but infrequent clinical condition, in which surgery can be considered as a therapeutic alternative, capable of safely resolving the status.