School of Medicine, Imperial College London, Exhibition Road, South Kensington, London, UK.
Wellington Hospital, HCA Healthcare, 27 Circus Road, London, UK.
BMC Neurol. 2024 Sep 28;24(1):359. doi: 10.1186/s12883-024-03865-z.
Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive condition caused by biallelic pathogenic variants in the DCAF17 gene, with fewer than 200 cases reported in the literature. Symptoms first emerge in middle-late adolescence with a spectrum of hypogonadal and progressive neurological features.
We present a case of WSS with no reportable T-weighted, apparent diffusion coefficient mapping and susceptibility weighted MRI findings. This differs from cases reported in the current literature. Our patient developed abnormal movements in both legs, clumsiness of the hands, dysarthria, and swallowing difficulties. Moreover, she presented with alopecia manifesting as frontal and temporal balding, severe dystonia with painful dystonic spasms primarily in the left upper limb, as well as primary amenorrhea. She was not independently ambulatory on presentation, requiring wheelchair assistance. Genetic testing, the crucial test for a definitive diagnosis, was undertaken in Qatar and confirmed WSS. Treatment provided includes botulinum toxin injections and deep brain stimulation, providing better dystonia control, with progress in walking and strength exercises, and overall remarkable improvement. Intensive neurorehabilitation regimes were also deployed from admission, including physiotherapy, occupational therapy and speech and language therapy.
This case adds to the current literature on WSS manifestations, with all previously reported cases having positive MRI findings, unlike our case.
Woodhouse-Sakati 综合征（WSS）是一种罕见的常染色体隐性疾病，由 DCAF17 基因的双等位致病性变异引起，文献中报道的病例少于 200 例。症状首先出现在青少年中期至晚期，表现为性腺功能减退和进行性神经特征。
我们报告了一例 WSS 病例，其 T 加权、表观弥散系数图和磁敏感加权 MRI 未见异常。这与当前文献报道的病例不同。我们的患者出现了双腿运动异常、手部笨拙、构音障碍和吞咽困难。此外，她还出现了脱发，表现为额部和颞部光秃，严重的肌张力障碍，主要是左上肢的疼痛性痉挛，以及原发性闭经。她就诊时无法独立行走，需要轮椅辅助。在卡塔尔进行的基因检测是明确诊断的关键测试，结果证实了 WSS。提供的治疗包括肉毒毒素注射和深部脑刺激，以更好地控制肌张力障碍，同时在行走和力量锻炼方面取得进展，整体情况显著改善。入院后还采用了强化神经康复方案，包括物理治疗、职业治疗和言语及语言治疗。
该病例增加了关于 WSS 表现的现有文献，所有之前报道的病例均有阳性 MRI 发现，与我们的病例不同。
