Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain...

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder stemming from sterol 27-hydroxylase enzyme deficiency.
• This deficiency leads to cholestanol accumulation, causing progressive neurological dysfunction, often presenting within the first three decades of life.
• Early replacement therapy can improve CTX symptoms, but delayed diagnosis can lead to significant challenges.

Observation:

• This case report focuses on a 42-year-old male with CTX diagnosed at age 22, experiencing a limiting tremor.
• Deep brain stimulation (DBS) was employed as an intervention for the tremor, a novel approach for CTX patients.
• The patient had a history of delayed diagnosis and treatment for his condition.

Findings:

• Deep brain stimulation (DBS) provided meaningful and sustained tremor control in the CTX patient.
• The positive effects of DBS on tremor persisted with minimal adjustments to stimulation parameters.
• DBS intervention did not negatively affect the patient's other CTX-related comorbidities.

Implications:

• Deep brain stimulation (DBS) represents a potential therapeutic option for managing tremors in patients with cerebrotendinous xanthomatosis (CTX).
• This case highlights the long-term benefits of DBS in addressing neurological symptoms of CTX, even with delayed diagnosis.
• Further research into DBS for CTX may offer new avenues for treating debilitating neurological manifestations of this rare disorder.