Intrathecal baclofen pump for severe hypertonia in a patient with juvenile Huntington's disease: illustrative case.

Background: While the symptoms of Huntington's disease (HD) typically first appear around the age of 40 years, 5%-10% of patients experience symptoms before the age of 21 years, in which case it is classified as juvenile Huntington's disease (JHD). JHD poses a unique clinical problem, as affected patients experience rapid deterioration in their quality of life as the motor manifestations of the disease become overwhelming. Medical treatment options for HD are sparse, and the only Food and Drug Administration-approved medication for the treatment of HD is the VMAT-2 inhibitor tetrabenazine. Unfortunately, treatments for JHD are even more limited, as investigational new drugs for HD oftentimes exclude patients with JHD from trials.

Observations: Here, the authors present the case of a 15-year-old male with severe hypertonia and dystonic events secondary to JHD that was successfully treated with an intrathecal baclofen (ITB) pump. The patient experienced an improvement in hypertonia and a reduction in the frequency of dystonic events after ITB pump implantation, resulting in overall improved patient comfort.

Lessons: This case highlights the potential benefits of ITB therapy in managing debilitating hypertonia-type symptoms in patients with JHD. Given the limited treatment options for JHD, this intervention has the potential to profoundly enhance the quality of life for affected individuals. https://thejns.org/doi/10.3171/CASE24512.