Objective: To describe a patient with a rare genetic disorder, Woodhouse-Sakati Syndrome, treated with deep brain stimulation (DBS) for dystonia.

Background: Woodhouse-Sakati Syndrome (WSS) is a rare multisystem disorder consisting of hypogonadism, alopecia, diabetes mellitus, deafness, intellectual disability and extrapyramidal movement disorders. To date, there have since been 72 cases (39 genetically confirmed) from 29 families described in the literature. The responsible gene, C2orf37 on chromosome 2q31.1, was discovered in 2008 with 10 mutations described to date. Movement disorders primarily consist of dystonia and/or choreoathetoid movements and tend to generalize.

Methods: A single case report.

Results: The birth and family history of patient is limited as he was adopted at the age 2. It is known he is of Romanian descent with parental consanguinity likely. The patient had normal development except for ADHD and mild speech delay until the age of 13 when he developed pubertal delay, learning difficulties and speech deterioration. At that time, he also developed symptoms consistent with dystonia including foot inversion, posturing when writing, and cervical dystonia. MRI brain was normal. Whole exome sequencing revealed a novel homozygous frameshift variant in the C2orf37 gene predicted to cause a truncated gene product. By age 17, the truncal dystonia caused scoliosis. He failed multiple medication trials (levodopa, baclofen, trihexyphenidyl, clonazepam and botulinum neurotoxin injections). Because of concern for further spinal deformity DBS was offered. He underwent bilateral GPi DBS lead placement using an interventional MRI technique at age of 18. At six weeks post-op there was notable improvement of his cervical and truncal dystonia at conventional monopolar settings. Spine X-rays showed improved scoliosis.

Conclusions: Pallidal DBS outcomes in cases of combined dystonia are often minimal and hard to predict. To our knowledge there has only been one other case of WSS treated with DBS in the world. Our patient has shown meaningful early cervical and truncal improvement in his dystonia but long-term follow-up will be needed to demonstrate a sustained benefit.

« Back to 2016 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/pallidal-deep-brain-stimulation-improves-dystonia-in-woodhouse-sakati-syndrome/