Intrathecal baclofen treatment an option in X-linked adrenoleukodystrophy


Intrathecal baclofen treatment an option in X-linked adrenoleukodystrophy


Hjartarson H T; Ehrstedt C; Tedroff K


European Journal of Paediatric Neurology




quality of life; pain; limited mobility; priority journal; school child; spasticity; fatigue; clinical examination; human; article; child; male; clinical article; dystonia; case report; 1309378-01-5 (botulinum toxin A); 1638949-86-6 (botulinum toxin A); 1800016-51-6 (botulinum toxin A); 93384-43-1 (botulinum toxin A); 1134-47-0 (baclofen); adrenoleukodystrophy/dt [Drug Therapy]; adrenoleukodystrophy/su [Surgery]; baclofen/dt [Drug Therapy]; baclofen/po [Oral Drug Administration]; baclofen/tl [Intrathecal Drug Administration]; X chromosome linked disorder/dt [Drug Therapy]; X chromosome linked disorder/su [Surgery]; Addison disease; adrenoleukodystrophy/dt [Drug Therapy]; balance disorder; behavior change; bladder dysfunction; botulinum toxin A; clonus; diplopia; drug dose increase; hearing disorder; hyperpigmentation; intrathecal pump; leukodystrophy; range of motion; strabismus; urinary catheter; visual disorder; X chromosome linked disorder/dt [Drug Therapy]; tone and motor problems; X-linked adrenoleukodystrophy; pharmacologic interventions; intrathecal baclofen; baclofen


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.


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Hjartarson H T; Ehrstedt C; Tedroff K, “Intrathecal baclofen treatment an option in X-linked adrenoleukodystrophy,” Pediatric Palliative Care Library, accessed February 23, 2024,