Deep Brain Stimulation in Woodhouse Sakati Syndrome: A Single Institution Retrospect Analysis
Yara Alkhodair1, Hend Alhodaif1, Faisal Alotaibi1, Amaal AlDakheel1
1Neuroscience Centre, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
Objective:

Evaluation of clinical response in patients with WSS-associated generalized dystonia following DBS to GPI

Background:

Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disease, known to have distinctive neuroendocrine manifestations.WSS covers diverse phenotypes (1). Neurological involvement is common, with dystonia being the most common neurological manifestation. Management of WSS necessitates a multidisciplinary team targeting symptomatic therapy. Like other types of dystonia, the first-line treatment includes oral medications and botulinum toxin injection followed by a surgical intervention such as Deep Brain Stimulation (DBS) of the Globus Pallidus Internus (GPI)(2). No clear guidelines are available for the treatment of dystonia in WSS. A thorough literature review showed one patient with WSS underwent bilateral GPI DBS, which improved his cervical and truncal dystonia (3)

Design/Methods:

Subjects with genetically confirmed WSS underwent DBS GPI to treat dystonia were analyzed retrospectively. Subjects were assessed using the Burk-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and videotaped pre & post surgery at different follow-up points. The primary outcome is the analysis of BFMDRS scores at baseline and one year after surgery. Preoperative factors such as the age of disease onset, disease duration at surgery, the proportion of life lived with dystonia, and rate of severity will be correlated to the primary outcome

Results:

Five patients were operated on between February 2011 to March 2021. Age at disease onset & disease duration at the time of surgery was 13.75 ± 2.48 and 7.0 ± 3.5 years, respectively. BFMDRS calculated DBS effects on dystonia severity. They were statistically and clinically effective, with a mean improvement of BFMDRS scores equal to 24.88 ± 24.70 and 25% (p-value is 0.01) at one-year follow-up. The result is significant at p <.05

 

 

Conclusions:

Our study found that DBS as advanced therapy of WSS with generalized dystonia has clinical and statistical improvement. Subjects had shown meaningful craniocervical and axial improvement one-year post-procedure

 

10.1212/WNL.0000000000201811