Intrathecal baclofen treatment an option in X-linked adrenoleukodystrophy

被引:10
作者
Hjartarson, Helgi Thor [1 ]
Ehrstedt, Christoffer [2 ,3 ]
Tedroff, Kristina [1 ,4 ]
机构
[1] Astrid Lindgren Childrens Hosp, Dept Neuropediat, Q302, S-17176 Stockholm, Sweden
[2] Uppsala Univ, Childrens Hosp, Uppsala, Sweden
[3] Uppsala Univ, Sect Pediat, Dept Womens & Childrens Hlth, Uppsala, Sweden
[4] Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden
关键词
Intrathecal baclofen; ITB; X-ALD; Adrenoleukodystrophy; Spasticity; DISEASE;
D O I
10.1016/j.ejpn.2017.09.003
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Background: X-linked adrenoleukodystrophy (X-ALD) is a genetic peroxisomal disorder associated with tissue accumulation of very long chain fatty acids (VLCFAs). In approximately one third of affected males, this causes progressive and irreversible damage to the brain white matter. Progress is often rapid with upper motor neuron damage leading to severe spasticity and dystonia. The increased muscle tone is frequently difficult to alleviate with oral drugs. Here, we describe two patients with X-ALD who have received treatment with intrathecal baclofen pumps (ITB). Case study: Both boys had a rapidly progressive cerebral form of the disorder resulting, among other things, in escalating spasticity and dystonia causing severe pain, dramatically reducing their quality of life. Both were treated with a variety of oral medications without adequate relief. Both patients tolerated ITB surgery without complications and the positive clinical effects of treatment with ITB became clear in the following weeks and months, with significantly reduced muscle tone, less pain and better sleep. Moreover, general caretaking became easier. Conclusion: The treatment of spasticity and dystonia in these patients is difficult partly due to the relentless nature of this progressive disorder. In our two patients, ITB has been effective from both a symptomatic and palliative perspective. We recommend that such treatment be considered as an early option for increased muscle tone in boys with the cerebral form of X-ALD. (C) 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
引用
收藏
页码:178 / 181
页数:4
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