From the Departments of Neurosciences (A.H.A., S.B., A.A.-S., F.S.A.-A., B.M., A.A.).
From the Departments of Neurosciences (A.H.A., S.B., A.A.-S., F.S.A.-A., B.M., A.A.)
AJNR Am J Neuroradiol. 2018 Dec;39(12):2256-2262. doi: 10.3174/ajnr.A5879. Epub 2018 Nov 8.
Woodhouse-Sakati syndrome is a rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, and progressive extrapyramidal signs. The disease is caused by biallelic pathogenic variants in the gene. The purpose of this study was to describe the spectrum of brain MR imaging abnormalities in Woodhouse-Sakati syndrome.
We reviewed brain MR images of 26 patients with a clinical and genetic diagnosis of Woodhouse-Sakati syndrome (12 males, 14 females; age range, 16-45 years; mean age, 26.6 years). Follow-up studies were conducted for 6 patients.
All patients had abnormal MR imaging findings. The most common abnormalities were a small pituitary gland (76.9%), pronounced basal ganglia iron deposition (73%), and white matter lesions in 69.2%. White matter lesions showed frontoparietal and periventricular predominance. All white matter lesions spared subcortical U-fibers and were nonenhanced. Prominent perivascular spaces (15.3%) and restricted diffusion in the splenium of the corpus callosum (7.6%) were less frequent findings. Follow-up studies showed expansion of white matter lesions with iron deposition further involving the red nucleus and substantia nigra. Older age was associated with a more severe degree of white matter lesions ( < .001).
Small pituitary gland, accentuated iron deposition in the globus pallidus, and nonenhancing frontoparietal/periventricular white matter lesions were the most noted abnormalities seen in our cohort. The pattern and extent of these findings were observed to correlate with older age, reflecting a possible progressive myelin destruction and/or axonal loss. The presence of pituitary hypoplasia and white matter lesions can further distinguish Woodhouse-Sakati syndrome from other neurodegenerative diseases with brain iron accumulation subtypes.
伍德豪斯-萨卡蒂综合征（Woodhouse-Sakati syndrome，WSS）是一种罕见的常染色体隐性遗传病，其特征为性腺功能减退、脱发、糖尿病和进行性锥体外系体征。该病由 基因的双等位基因致病性变异引起。本研究旨在描述伍德豪斯-萨卡蒂综合征患者脑磁共振成像（MRI）异常的频谱。
我们回顾性分析了 26 例临床和基因诊断为伍德豪斯-萨卡蒂综合征患者的脑部 MRI 图像（男性 12 例，女性 14 例；年龄 16-45 岁，平均年龄 26.6 岁）。对 6 例患者进行了随访研究。
所有患者的 MRI 检查均存在异常。最常见的异常表现为：垂体小（76.9%）、基底节铁沉积明显（73%）和白质病变（69.2%）。白质病变以额顶和脑室旁为主。所有白质病变均不累及皮质下 U 纤维且无强化。大血管周围间隙增宽（15.3%）和胼胝体压部弥散受限（7.6%）相对少见。随访研究显示，白质病变伴铁沉积进一步累及红核和黑质。年龄较大与白质病变严重程度较高相关（ <.001）。
在我们的队列中，最常见的异常表现为垂体小、苍白球铁沉积明显和非强化额顶/脑室旁白质病变。这些表现的类型和程度与年龄相关，提示可能存在进行性髓鞘破坏和/或轴索丢失。存在垂体发育不良和白质病变可进一步将伍德豪斯-萨卡蒂综合征与其他具有脑铁沉积亚型的神经退行性疾病区分开来。
