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 phenotype and disease course (1). Neurological involvement is common, with dystonia being the most common neurological manifestation. Management of WSS necessitates a multidisciplinary team targeting symptomatic therapy. No clear guidelines are available for the treatment of dystonia in WSS.The treatment for dystonia includes oral medications and botulinum toxin injection as the first line followed by a surgical intervention such as Deep Brain Stimulation (DBS) of the Globus Pallidus Internus (GPI) (2). DBS in treating WSS is not commonly performed; while searching the literature, we found that one patient with WSS underwent bilateral GPI DBS, which improved his cervical and truncal dystonia (3).

Method: Patients with genetically confirmed WSS who underwent DBS GPI to treat dystonia in a single institution were retrospectively analyzed. The primary objective was measuring the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) between baseline and one-year follow-up. Factors such as age at diagnosis, disease duration at surgery, the severity of dystonia calculated by BFMDRS at baseline, and a one-year follow-up were considered.

Results: Four patients were operated on between February 2011 to October 2020. Age at disease onset and 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, equivalent to 25% (p-value is 0.01) at one-year follow-up. The result is significant at p <.05.

Conclusion: Our study found that Deep brain stimulation as advanced therapy of Woodhouse–Sakati syndrome associated with generalized dystonia has clinical and statistical improvement. Our patients had shown meaningful craniocervical and axial improvement one-year post-procedure. One out of the four patients had gait worsening following the procedure, while there was improvement in other aspects of dystonia. This worsening could be a side effect of GPI stimulation. Further follow-up BFMDRS will be conducted at 18 months and 2 years in the future.

References: 1- Hdiji O, Turki E, Bouzidi N, Bouchhima I, Damak M, Bohlega S, Mhiri C. Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation. J Mov Disord. 2016 May;9(2):120-3. doi: 10.14802/jmd.16003. Epub 2016 May 25. PMID: 27240811; PMCID: PMC4886203.

2-Bohlega SA, Alkuraya FS. Woodhouse-Sakati Syndrome. 2016 Aug 4. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2021.

3-J.Y. Chen, J.L. Ostrem, B. Lee, P. Starr, A. Viehoever. Pallidal deep brain stimulation improves dystonia in Woodhouse-Sakati syndrome [abstract]. Mov Disord. 2016; 31 (suppl 2).

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MDS Abstracts - https://www.mdsabstracts.org/abstract/deep-brain-stimulation-in-woodhouse-sakati-syndromea-single-institution-retrospect-analysis/