Rocha Ruben, Kaliakatsos Marios
Centro Materno infantil do Norte, Centro Hospitalar Universitário do Porto, Porto, Portugal.
Paediatric Neurology, Great Ormond Street Hospital for Children, London, United Kingdom.
Seizure. 2020 Jan 28;76:89-95. doi: 10.1016/j.seizure.2020.01.017.
Parry-Romberg syndrome (PRS) is a rare disorder characterized by unilateral slow progressive facial atrophy that can be associated with neurologic manifestations, namely seizures. There is scarce data about seizures in paediatric patients with PRS. The aim of our work was to clarify the clinical features of paediatric patients with PRS and seizures.
We performed a literature review based on a literature search using PubMed and EMBASE databases. We included original articles in which the main diagnosis was PRS and the patients were 17 years old or less when the first seizure occurred.
We included 40 patients. Most of the patients had previously normal development and had their first seizure in the first decade of life. Neurologic examination was abnormal in 56 % of patients. Seizures are typically focal, frequently with impaired awareness, and became refractory in about 40 % of patients. Few patients have generalized seizures. On electroencephalogram, epileptic discharges are generally focal, on the same side as the facial atrophy, without a predominant cerebral lobe localization. Brain MRI is almost always abnormal, typically with T2 subcortical hyperintensities, and sometimes brain atrophy or calcifications. In addition to the classic antiepileptic drugs, immunosuppressive drugs should be considered as potential epilepsy treatment.
To the best of our knowledge, this is the first review dedicated to the characteristics of paediatric patients with PRS and epilepsy. Seizures are usually focal, became refractory in 40 %, and have a significant impact on the quality of life and neurodevelopment of patients.
帕里-龙贝格综合征（PRS）是一种罕见疾病，其特征为单侧面部缓慢进行性萎缩，可伴有神经系统表现，即癫痫发作。关于PRS患儿癫痫发作的数据很少。我们研究的目的是阐明患有PRS和癫痫发作的儿科患者的临床特征。
我们基于使用PubMed和EMBASE数据库进行的文献检索开展了一项文献综述。我们纳入了主要诊断为PRS且首次癫痫发作时年龄在17岁及以下的原始文章。
我们纳入了40例患者。大多数患者此前发育正常，首次癫痫发作发生在生命的第一个十年。56%的患者神经系统检查异常。癫痫发作通常为局灶性，常伴有意识障碍，约40%的患者癫痫发作变为难治性。少数患者有全身性癫痫发作。脑电图显示，癫痫放电一般为局灶性，与面部萎缩在同一侧，无主要的脑叶定位。脑部磁共振成像（MRI）几乎总是异常，典型表现为T2加权像皮质下高信号，有时有脑萎缩或钙化。除了经典的抗癫痫药物外，免疫抑制药物应被视为潜在的癫痫治疗药物。
据我们所知，这是第一篇专门针对患有PRS和癫痫的儿科患者特征的综述。癫痫发作通常为局灶性，40%变为难治性，对患者的生活质量和神经发育有重大影响。
