Intrathecal baclofen therapy can improve spasticity associated with infantile-onset dentatorubral-pallidoluysian atrophy: illustrative cases.

Abstract

Background: In this study, the authors aimed to investigate the efficacy of intrathecal baclofen (ITB) therapy in alleviating intractable spasticity in patients with infantile-onset dentatorubral-pallidoluysian atrophy (DRPLA). Given the lack of effective treatments for the severe spasticity observed in infantile-onset DRPLA patients, this study explored ITB therapy as a potential therapeutic strategy.

Observations: The authors included 3 patients (2 males and 1 female, aged 9-24 years) diagnosed with infantile-onset DRPLA who underwent ITB pump implantation. All patients exhibited severe spasticity unresponsive to conventional treatments. Patient demographics, clinical history, cytosine-adenine-guanine repeat number, radiological findings, and symptomatic improvements after ITB therapy were recorded and analyzed. The 3 patients demonstrated marked improvement in spasticity following ITB therapy, with significant reductions in modified Ashworth scale score and alleviation of pain, facilitating easier care and improving quality of life. Improvements were also noted in paroxysmal hypertonia frequency, sleep disturbances, and emaciation.

Lessons: ITB therapy significantly reduced intractable spasticity and associated symptoms in patients with infantile-onset DRPLA, offering a promising therapeutic option for this patient population. Further studies are warranted to explore the long-term efficacy and safety of ITB therapy in a larger cohort of DRPLA patients. https://thejns.org/doi/10.3171/CASE24784.