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鞘内注射巴氯芬治疗脑白质营养不良伴异染性脑白质病。

Intrathecal baclofen in metachromatic leukodystrophy.

机构信息

Department of Rehabilitation Medicine, VU University Medical Center, Amsterdam Movement Sciences, Amsterdam, the Netherlands.

Department of Child Neurology, Center for Childhood White Matter Disorders, VU University Medical Center and Amsterdam Neuroscience, Amsterdam, the Netherlands.

出版信息

Dev Med Child Neurol. 2019 Feb;61(2):232-235. doi: 10.1111/dmcn.13919. Epub 2018 May 27.

Abstract

Metachromatic leukodystrophy (MLD) is a rare progressive neurological disorder, often accompanied by motor impairments that are challenging to treat. In this case series, we report the course of treatment with intrathecal baclofen (ITB), aimed at improving daily care and comfort in children and young adults with MLD. All patients with MLD in our centre on ITB treatment for a minimum of 6 months were included (n=10; 4 males, 6 females; mean age 10y 8mo [range 6-24y]). Eight patients had MLD with a predominant spastic movement disorder (sMLD) and two were mainly dyskinetic. Patients with sMLD were compared with matched patients with spastic cerebral palsy (CP). Complication rates related to ITB treatment were similar in both groups. ITB treatment course in the first 6 months after pump implantation appears to show more dose increase in most patients MLD, compared to patients with spastic CP. This may be due to the progressive disease in MLD. ITB is a feasible therapy to improve daily care and comfort in patients with MLD and should therefore be considered early. WHAT THIS PAPER ADDS: Intrathecal baclofen (ITB) is a feasible therapy to improve comfort and daily care in children and young people with metachromatic leukodystrophy (MLD). In the first 6 months of ITB treatment, MLD seems to show more dose increase compared to spastic cerebral palsy.

摘要

脑腱黄瘤病(MLD)是一种罕见的进行性神经疾病,常伴有运动功能障碍,治疗难度大。在本病例系列中,我们报告了鞘内巴氯芬(ITB)治疗的过程,旨在改善 MLD 儿童和青少年的日常护理和舒适度。我们中心所有接受 ITB 治疗至少 6 个月的 MLD 患者均纳入本研究(n=10;4 名男性,6 名女性;平均年龄 10y 8mo[范围 6-24y])。8 名患者为主要表现为痉挛性运动障碍的 MLD(sMLD),2 名患者主要为运动障碍。sMLD 患者与匹配的痉挛性脑瘫(CP)患者进行比较。两组患者 ITB 治疗相关并发症发生率相似。与 CP 患者相比,大多数 MLD 患者在泵植入后 6 个月内 ITB 治疗过程中似乎需要增加更多剂量。这可能是由于 MLD 的进行性疾病。ITB 是一种可行的治疗方法,可以改善 MLD 患者的日常护理和舒适度,因此应尽早考虑。本文的主要发现:鞘内巴氯芬(ITB)是一种可行的治疗方法,可以改善脑腱黄瘤病(MLD)儿童和青少年的舒适度和日常护理。在 ITB 治疗的前 6 个月,MLD 似乎比痉挛性脑瘫需要增加更多剂量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f98f/7379712/5a4eccec2a32/DMCN-61-232-g001.jpg

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