Dyke-Davidoff-Masson综合征——文献综述

Piotr Jan Potyrała, Aleksandra Krawczuk, Jan Bieniasz, Igor Matkowski, Konrad Dendys, Paula Bigos, Wojciech Kuźnicki, Krzysztof Chmielak
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摘要

戴克-大卫杜夫-梅森综合征是一种极其罕见的医学病症,由胎儿期或幼儿期发生的脑损伤引起。该综合征的病因可以是先天性的,也可以是后天的。该综合征的临床表现是多变的,取决于中枢神经系统损伤的程度。它最常见的表现为癫痫发作,智力残疾和偏瘫/偏瘫,通常在第一次发作之前。人们怀疑智力损害是癫痫的后果。症状谱还包括精神疾病,特别是精神障碍和情绪障碍。该综合征的影像学表现包括脑中线移位、脑侧裂增宽、脑半球发育不全/发育不全、同侧颅骨增厚、侧脑室增大、额骨、蝶骨和乳突过度充气。诊断主要基于影像学检查,如计算机断层扫描和磁共振成像,以及神经学检查和脑电图。在患者的病史记录中,应特别注意妊娠史和儿童期,以确定潜在的病因。实验室检查未发现Dyke-Davidoff-Mason综合征的特征性变化。治疗主要是对症治疗。对医生来说最大的挑战是控制癫痫发作。最初采用保守治疗。如果证实无效,则应考虑手术治疗。
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Dyke–Davidoff–Masson syndrome – a review of the literature
Dyke–Davidoff–Mason syndrome is an extremely rare medical condition that results from brain damage occurring during foetal life or early childhood. The aetiology of the syndrome can be congenital or acquired. The clinical presentation of the syndrome is variable, and depends on the extent of damage to the central nervous system. It most commonly manifests as epileptic seizures, intellectual disability, and hemiparesis/hemiplegia, which is usually preceded by the first seizure. It is suspected that intellectual impairment is a consequence of epilepsy. The spectrum of symptoms also includes psychiatric conditions, particularly psychotic disorders and mood disorders. Radiological manifestations of the syndrome include midline cerebral shift, widening of the Sylvian fissure, hemispheric aplasia/hypoplasia of the brain, ipsilateral cranial bone thickening, lateral ventricle enlargement, as well as hyperpneumatisation of the frontal and sphenoid bones, and the mastoid process. Diagnosis is mainly based on imaging tests such as computed tomography and magnetic resonance imaging, as well as neurological examination and electroencephalography. During the patient’s history-taking, particular attention should be paid to pregnancy history and the childhood period in order to identify potential etiological factors. No characteristic changes in laboratory tests indicating Dyke–Davidoff–Mason syndrome have been found. Treatment is primarily symptomatic. The greatest challenge for physicians is the control of epileptic seizures. Conservative treatment is initially employed. If proven to be ineffective, surgical treatment should be considered.
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