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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >The Palliative Use of Intrathecal Baclofen in Niemann-Pick Disease Type C
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The Palliative Use of Intrathecal Baclofen in Niemann-Pick Disease Type C

机译：在尼曼宁肝病型疾病类型C中的痛苦使用鞘内乳蛋白

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Niemann-Pick disease type C is a rare progressive genetic disorder that leads to the abnormal accumulation of lipids within various tissues of the body, including brain tissue and liver. There is a rapid progression of the disease, resulting in severe disability in only a few years after the first symptoms, and survival is not much longer. Spasticity, dystonia, and chronic pain are common findings that severely impact quality of life in these patients. Analgesic management with traditional pain medications is not always effective, and the risk for secondary effects in medically complex patients is high. Liver function is also a limiting factor in these patients. This is a case report of a boy with advanced Niemann-Pick disease type C with developmental regression, cataplexia, and seizures. His severe spasticity made positioning and care difficult, and intense pain required multiple hospitalizations. He had unsuccessfully trialed multiple drugs. An intrathecal baclofen pump was placed without surgical complications and resulted in positive clinical effects. Baclofen pumps have classically been used for spasticity management in adults and children with nonprogressive diseases such as cerebral palsy or spinal cord injury with relatively long life expectancies. In adults, they have been used in patients with multiple sclerosis; however, use in pediatric neurodegenerative diseases has scarcely been reported. The use of intrathecal baclofen in palliative settings might provide an additional resource to provide comfort and quality of life for children with neurodegenerative diseases not only at end-of-life stages but also earlier on.
机译：Niemann-Pick疾病C是一种罕见的渐进性遗传疾病，导致体内各种组织内脂质的异常积累，包括脑组织和肝脏。疾病的快速进展，在第一个症状后几年后导致严重残疾，生存并不多。痉挛性，缺陷和慢性疼痛是常见的发现，即这些患者的生活质量严重影响。具有传统疼痛药物的镇痛药并不总是有效的，并且医学上复杂患者中的二次效果的风险很高。肝功能也是这些患者的限制因素。这是一个具有高级尼马曼氏蛋白疾病C型的男孩的案例报告，具有发育回归，催化和癫痫发作。他的严重痉挛使定位和护理困难，强烈的疼痛需要多次住院治疗。他没有成功试用多种药物。静置鞘内骨肉蛋白泵没有手术并发症，导致正临床疗效。 Baclofen泵在成人和患有非进口疾病的痉挛性管理中，术痉挛性管理均可用于脑瘫或脊髓损伤，寿命相对较长。在成人中，他们已被用于多发性硬化症的患者;然而，据报道，在儿科神经变性疾病中使用。在姑息地区的使用中使用鞘内切洛芬可以提供额外的资源，以为不仅在寿命阶段的神经退行性疾病的儿童提供舒适和生活质量，也可以提前。

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