CASE REPORT
Objetivo: Apresentar um caso de uma infrequente distonia refratária por mutação no gene DYT1 em um menino jovem que foi tratado com estimulação cerebral profunda (DBS – da sigla em inglês). Relato do caso: Jovem de 18 anos do sexo masculino afetado por uma distonia de torção cervical do pescoço e membros superiores. A análise genética identificou uma mutação de superexpressão no gene DYT1. Terapias prévias incluíram fisioterapia, injeções de toxina botulínica, drogas como primidona e clonazepam, mas todas com pouca ou nenhuma melhora. O paciente foi submetido a duas neurocirurgias para inserção do DBS no lado esquerdo e direito do Globo Pálido interno (GPi). Os eletrodos inseridos foram da Medtronic® 3389 e o gerador foi Activa RC rechargeable. O pós-operatório de ambos os procedimentos foi de sucesso, sem nenhum déficit identificado. Após um seguimento de 2 anos, o paciente apresenta vida normal comparada à média de sua idade, sem nenhum sintoma ou complicação que apresentava antes. Conclusão: O caso apresentado mostrou excelente evolução por se tratar de jovem com distonia por DYT1. Esse tipo de distonia é uma doença que pode acometer jovens, mas tem bom prognóstico com a inserção do DBS.
Purpose: To present a case of an infrequent refractory dystonia due to DYT1 gene mutation in an 18-year-old male patient that was later treated with Deep Brain Stimulation (DBS). Case presentation: Male 18-year-old patient, affected by torsion dystonia of the neck and upper limbs is reported. Genetic analysis identified a DYT1 gene superexpression mutation. Previous therapies had included physiotherapy, botulinum toxin injection, drugs such as primidone and clonazepam, but all with little improvement. The patient underwent two neurosurgeries in order to insert Deep Brain Stimulation (DBS) on his left and right internal Globus Pallidus (GPi). The electrodes inserted were Medtronic® 3389 and the generator was Activa RC rechargeable. The postoperative period of both procedures were successful, without any identified deficits. After a 2-year follow-up period, the patient presents a normal life compared to the average of his age, without any of the symptoms or complications that he had before. Conclusions: DYT1-dystonia is a disabling disease that can affect young patients but shows good prognosis with DBS therapy. The reported case presented an excellent outcome particularly because it involves a young patient with DYT1-related dystonia.
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1 Medical student, Faculty of Medical Sciences of Santa Casa de São Paulo, São Paulo, SP, Brazil.
2 Medical student, Faculty of Medicine, Pontifical Catholic University of São Paulo, São Paulo, SP, Brazil.
3 MD, PhD, Neurosurgeon, Department of Functional Neurosurgery, Santa Casa de Misericórdia de São Paulo Hospital, São Paulo, SP, Brazil.
4 MD, PhD, Neurosurgeon, Department of Neurosurgery, Santa Paula Hospital; Professor, Faculty of Medical Sciences of Santa Casa de São Paulo; Professor, Medical School of ABC, São Paulo, SP, Brazil.
Received June 6, 2022
Corrected Aug 15, 2022
Accepted Aug 15, 2022
