Asunto(s)
Estimulación Encefálica Profunda/efectos adversos , Trastornos Distónicos/diagnóstico por imagen , Neuroestimuladores Implantables/efectos adversos , Neurodegeneración Asociada a Pantotenato Quinasa/diagnóstico por imagen , Falla de Prótesis/efectos adversos , Adolescente , Estimulación Encefálica Profunda/instrumentación , Trastornos Distónicos/complicaciones , Trastornos Distónicos/cirugía , Femenino , Globo Pálido/diagnóstico por imagen , Globo Pálido/cirugía , Humanos , Neurodegeneración Asociada a Pantotenato Quinasa/complicaciones , Neurodegeneración Asociada a Pantotenato Quinasa/cirugíaRESUMEN
INTRODUCTION: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disease that leads to extrapyramidal symptoms, such as dystonia, ataxia, dysarthria, and involuntary movements. Treatment of PKAN with deep brain stimulation (DBS) has been reported, but mainly focuses on targeting the globus pallidus internus (GPi). Subthalamic nuclei (STN) may also be a potential target for treatment of PKAN. METHODS: In this study, we reviewed three patients with PKAN (two with typical PKAN and one with atypical PKAN) treated by bilateral STN stimulation and present a review of the literature. All patients received neurological evaluation using the Burke-Fahn-Marsden Dystonia Rating Scale-movement (BFMDRS) scoring system before and after surgery. Patients were then subject to regular clinical follow-ups (ranging from 22 to 44 months). RESULTS: The mean stimulation amplitude, pulse width and frequency was 2.65 ± 0.45 V, 91.7 ± 21.9 µs, and 146.7 ± 12.5 Hz, respectively. BFMDRS scores were improved in all patients after surgery, ranging from 41.6 to 73.1%. Improvements of appendicular symptoms ranged from 46.2 to 94.1%, and improvements of axial symptoms ranged from 27.3 to 33.3%. No side effects were reported in patients 1 and 2; whereas patient 3 exhibited a mild decline in verbal fluency one year after surgery. CONCLUSION: STN stimulation could serve as a candidate DBS target in the treatment of PKAN, especially for patients with prominent appendicular symptoms.
Asunto(s)
Estimulación Encefálica Profunda/métodos , Neurodegeneración Asociada a Pantotenato Quinasa/diagnóstico por imagen , Neurodegeneración Asociada a Pantotenato Quinasa/cirugía , Núcleo Subtalámico/diagnóstico por imagen , Núcleo Subtalámico/cirugía , Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neurodegeneración Asociada a Pantotenato Quinasa/genética , Resultado del TratamientoAsunto(s)
Dexmedetomidina/administración & dosificación , Neurodegeneración Asociada a Pantotenato Quinasa/diagnóstico , Neurodegeneración Asociada a Pantotenato Quinasa/tratamiento farmacológico , Adolescente , Anestesia General/métodos , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Neurodegeneración Asociada a Pantotenato Quinasa/cirugíaRESUMEN
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.
Asunto(s)
Dominancia Cerebral/fisiología , Globo Pálido/cirugía , Neurodegeneración Asociada a Pantotenato Quinasa/cirugía , Técnicas Estereotáxicas , Núcleos Talámicos Ventrales/cirugía , Enfermedad Aguda , Adolescente , Adulto , Ganglios Basales/patología , Ganglios Basales/fisiopatología , Ganglios Basales/cirugía , Bronquitis/etiología , Bronquitis/prevención & control , Estimulación Encefálica Profunda , Disnea/etiología , Disnea/prevención & control , Fracturas del Fémur/etiología , Fracturas del Fémur/prevención & control , Estudios de Seguimiento , Fracturas Espontáneas/etiología , Fracturas Espontáneas/prevención & control , Globo Pálido/patología , Globo Pálido/fisiopatología , Humanos , Imagen por Resonancia Magnética , Masculino , Examen Neurológico , Neuronas/fisiología , Neurodegeneración Asociada a Pantotenato Quinasa/diagnóstico , Neurodegeneración Asociada a Pantotenato Quinasa/fisiopatología , Reoperación , Traqueotomía , Núcleos Talámicos Ventrales/patología , Núcleos Talámicos Ventrales/fisiopatologíaRESUMEN
The authors presents some clinical and histochemical problems in Hallervorden-Spatz disease (HSD) and a suggestion about the choice of anesthesia in a teenage women qualified to dental sanitation. All suggestions were based on literature references and kinetic parameters of used anesthetics. The safety and practical analysis of TIVA were underlined.
Asunto(s)
Anestésicos Intravenosos/administración & dosificación , Anestésicos Intravenosos/farmacología , Neurodegeneración Asociada a Pantotenato Quinasa/fisiopatología , Neurodegeneración Asociada a Pantotenato Quinasa/cirugía , Propofol/administración & dosificación , Propofol/farmacología , Adulto , Femenino , Hemodinámica/efectos de los fármacos , HumanosRESUMEN
Severe dystonia or status dystonicus is a life threatening disorder that develops in patients with both primary and secondary dystonia. We present the case of a 9-year-old boy with Hallervorden-Spatz disease (HVS) who developed status dystonicus, failing to respond to high dose oral therapy with multiple antidystonic agents. High dose intravenous sedating agents combined with endotracheal intubation and mechanical ventilation were required to control the spasms. Alleviation of the spasms was achieved by a combination of temporary intrathecal baclofen infusions and bilateral pallidotomy. Although it could be argued this is a situation where only palliative measures should be used, we believe a relatively aggressive approach was justified. It relieved the intense pain associated with the spasms and allowed the child to be discharged home without the prolonged stay in intensive care, morbidity and mortality, which characterize status dystonicus.
Asunto(s)
Trastornos Distónicos/etiología , Neurodegeneración Asociada a Pantotenato Quinasa/complicaciones , Baclofeno/uso terapéutico , Niño , Terapia Combinada , Trastornos Distónicos/tratamiento farmacológico , Trastornos Distónicos/cirugía , Globo Pálido/cirugía , Humanos , Inyecciones Espinales , Imagen por Resonancia Magnética , Masculino , Relajantes Musculares Centrales/uso terapéutico , Neurodegeneración Asociada a Pantotenato Quinasa/tratamiento farmacológico , Neurodegeneración Asociada a Pantotenato Quinasa/cirugía , Resultado del TratamientoRESUMEN
We report the numerous management challenges surrounding the care of a child in whom bilateral thalamotomies were used to treat end-stage Hallervorden-Spatz Disease (HSD). The management of this patient was greatly facilitated by the use of modern anesthetic agents and a multidisciplinary team to care for the patient. The outcome was an improved life expectancy and quality of life.
Asunto(s)
Anestesia , Neurodegeneración Asociada a Pantotenato Quinasa/cirugía , Tálamo/cirugía , Terapia Asistida por Computador , Niño , Potenciales Evocados , Femenino , Humanos , Monitoreo Intraoperatorio , Procedimientos Neuroquirúrgicos , Grupo de Atención al Paciente , Medicación Preanestésica , Técnicas Estereotáxicas , Resultado del TratamientoRESUMEN
The authors present a case of Hallervorden-Spatz disease (HSD) in a 10-year-old boy treated with stereotactic pallidotomy for control of severe dystonia. Hallervorden-Spatz disease is a rare type of neuraxonal dystrophy that can be familial or sporadic. This is the first case of HSD reported in the literature in which a pallidotomy was performed. The patient had progressively worsening dystonias and spasms that prevented useful function of his entire right side and eventually threatened his respiratory ability. Pre- and postoperative magnetic resonance images are presented along with electrophysiological recordings made in the globus pallidus at the time of surgery. Functional improvement in the use of the patient's limbs and relief from the painful dystonia were observed. Stereotactic pallidotomy should be considered as a potential treatment in the management of HSD.
Asunto(s)
Globo Pálido/cirugía , Neurodegeneración Asociada a Pantotenato Quinasa/cirugía , Técnicas Estereotáxicas , Niño , Distonía/etiología , Distonía/fisiopatología , Electrofisiología , Extremidades/fisiopatología , Globo Pálido/fisiopatología , Humanos , Periodo Intraoperatorio , Imagen por Resonancia Magnética , Masculino , Dolor/fisiopatología , Neurodegeneración Asociada a Pantotenato Quinasa/complicaciones , Neurodegeneración Asociada a Pantotenato Quinasa/diagnóstico , Resultado del TratamientoRESUMEN
We present a 10-year-old girl with Hallervorden-Spatz disease diagnosed clinically from the neurological manifestations and the characteristic MRI findings. Her main symptom, dystonia, was progressive and resistant to medication, but this dystonia was controlled by bilateral thalamotomy. No clinical progression of the symptoms was recognized at 21 months from the last operation.