Dulski Jaroslaw, Schinwelski Michal, Mandat Tomasz, Pienczk-Ręcławowicz Karolina, Sławek Jaroslaw
Neurology Department, St Adalbert Hospital Copernicus PL, Gdansk, Poland.
Stereotact Funct Neurosurg. 2016;94(2):123-5. doi: 10.1159/000445078. Epub 2016 Apr 22.
The prevalence of deafness-dystonia syndrome (DDS) is relatively low. To our knowledge, only 2 cases of this syndrome treated with deep brain stimulation (DBS) have been reported.
We present a patient with DDS of unknown cause, refractory to medical treatment, who has been successfully treated with DBS of the internal globus pallidus (DBS-GPi) and followed up for 4 years.
A 21-year-old male, with progressive bilateral sensorineural hearing loss since the age of 3, developed dystonic movements at the age of 12. The patient presented with progressive segmental craniocervical dystonia with jaw-opening, tongue protrusion, retrocollis and gradual overflow including upper limb dystonia. Pharmacological therapy was ineffective. At the age of 17, the patient's condition deteriorated with the risk of developing a dystonic state.
DBS-GPi implantation resulted in a striking improvement. The Burke-Marsden-Fahn Dystonia Rating Scale (BMFDRS) score improved from 75 points before the surgery to 10 points at 3 months after DBS-GPi implantation. Neurological examination at the age of 21 showed mild dystonic movements, mainly oromandibular dystonia (BMFDRS: 15 points). The clinical phenotype of our patient was consistent with Mohr-Tranebjaerg syndrome (MTS). We performed genetic analysis of the TIMM8A gene (the only gene in which mutations are known to cause MTS), but the result was negative; however, other potentially new mutations have to be considered.
Based on our case with the longest reported follow-up of 4 years and 2 earlier reports, we advise to consider DBS-GPi in patients with DDS with unsatisfactory effect of pharmacological treatment.
耳聋 - 肌张力障碍综合征（DDS）的患病率相对较低。据我们所知，仅有2例该综合征患者接受了脑深部电刺激（DBS）治疗的报道。
我们报告1例病因不明、药物治疗无效的DDS患者，其接受苍白球内侧部脑深部电刺激（DBS - GPi）治疗并成功随访4年。
一名21岁男性，自3岁起出现进行性双侧感音神经性听力损失，12岁时出现肌张力障碍性运动。患者表现为进行性节段性颅颈肌张力障碍，伴有张口、伸舌、头后仰，且逐渐累及上肢出现肌张力障碍。药物治疗无效。17岁时，患者病情恶化，有发展为肌张力障碍状态的风险。
DBS - GPi植入术后有显著改善。伯克 - 马斯登 - 法恩肌张力障碍评定量表（BMFDRS）评分从手术前的75分改善至DBS - GPi植入术后3个月的10分。21岁时的神经学检查显示轻度肌张力障碍性运动，主要为口下颌肌张力障碍（BMFDRS：第15分）。我们患者的临床表型与莫尔 - 特拉内耶尔格综合征（MTS）一致。我们对TIMM8A基因（已知唯一可因突变导致MTS的基因）进行了基因分析，但结果为阴性；然而，仍需考虑其他潜在的新突变。
基于我们这例随访时间长达4年的病例以及2篇早期报道，我们建议对于药物治疗效果不佳的DDS患者考虑DBS - GPi治疗。
