科凯恩综合征型：一种非常罕见的伴发出血性脑卒中的疾病。
Cockayne syndrome type: a very rare association with hemorrhagic stroke.
机构信息
Departments of Radiology, İstanbul Medeniyet University Faculty of Medicine, Göztepe Training and Research Hospital, İstanbul, Turkey.
Departments of Pediatric Neurology, İstanbul Medeniyet University Faculty of Medicine, Göztepe Training and Research Hospital, İstanbul, Turkey.
出版信息
Turk J Pediatr. 2021;63(5):922-926. doi: 10.24953/turkjped.2021.05.022.
BACKGROUND
Cockayne Syndrome (CS) is a rare autosomal recessive disorder that is mainly characterized by neurodevelopmental delay, cutaneous photosensitivity, and cachectic dwarfism. Genetic diagnosis is supported by the typical physical appearance and imaging findings of these patients.
CASE
In our case, a 16-year-old female previously diagnosed as CS presented with right-sided hemiparesis. Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) images showed diffuse cerebral and cerebellar atrophies, volume loss of brain stem, calcification of the bilateral basal ganglia, hemorrhage on the posterior limb of the left internal capsule, thalamus, and posterior periventricular area.
CONCLUSIONS
Cockayne syndrome is rarely associated with stroke; we report the clinical and neuroradiologic findings of CS presenting with a hemorrhagic stroke.
背景
Cockayne 综合征（CS）是一种罕见的常染色体隐性遗传疾病，主要表现为神经发育迟缓、皮肤光敏性和消瘦性侏儒症。这些患者的典型体格检查和影像学发现支持基因诊断。
病例
在我们的病例中，一名 16 岁的女性患者此前被诊断为 CS，出现右侧偏瘫。磁共振成像（MRI）和计算机断层扫描（CT）图像显示弥漫性脑和小脑萎缩、脑干体积损失、双侧基底节钙化、左侧内囊后肢、丘脑和后脑室周围区域出血。
结论
Cockayne 综合征很少与中风有关；我们报告了以出血性中风为表现的 CS 的临床和神经影像学发现。
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