Yang Haipo, Song Danyu, Liu Yidan, Chen Xiaoyu, Zhu Ying, Wei Cuijie, Fu Xiaona, Liu Xiaoyan, Yang Zhixian, Xiong Hui
Department of Pediatrics, Peking University First Hospital, No.1, Xi'anmen Street, Beijing, Xicheng District 100034, China.
Department of Radiology, Peking University First Hospital, No.8 Xishiku Street, Beijing, West District 100034, China.
Seizure. 2022 Oct;101:39-47. doi: 10.1016/j.seizure.2022.07.008. Epub 2022 Jul 13.
To delineate the seizure type, phenotype and V-EEG patterns of dystroglycanopathy (DGP) and correlate them with the neuroradiological and genetic results.
Patients with seizures were screened from our dystroglycanopathy database from January 2010 to March 2021. Detailed clinical information, including seizure type, brain magnetic resonance imaging (MRI), EEG and genetic analysis, was collected.
Thirteen patients (15.1%, 13/86) had seizures. Most patients had a severe phenotype. The mean age at first seizure onset was 2 years and 8 months. The most common seizure type was generalized tonic-clonic seizure (GTCS), with 92.3% (12/13) induced by fever. Three patients were diagnosed with epilepsy. Most patients did not take any medicine. A few patients had irregular use of antiseizure medications (ASMs). Of the 13 patients, seven patients were diagnosed with MEB, four patients with POMGNT1 mutations, two with ISPD mutations, and one with POMT1 mutation. Three patients were diagnosed with FCMD with FKTN mutations. Two patients were diagnosed with CMD-MR, one patient with ISPD mutation, and one with POMT1 mutation. One patient was diagnosed with LGMD with FKRP mutation. Nine patients underwent EEG examination, and eight patients had abnormal EEG results, including abnormal background activities in three patients, abnormal background activities combined with paroxysmal discharges in three patients, pure paroxysmal discharges in one patient and positive phase sharp waves in the occipital region in one patient. For radiology, brain MRI was available for 12 patients. The brain MRI of nine patients showed type II lissencephaly. Two patients showed cerebellar hypoplasia and brainstem hypoplasia. One patient had a normal brain MRI result. Patients with type II lissencephaly usually had abnormal background activities and paroxysmal discharges.
The seizure phenotype of dystroglycanopathy (DGP) is characterized by GTCS, which was the most common seizure type, while focal seizures and epileptic spasms could also occur in DGP patients. Most seizures were induced by fever. Seizures were relatively more frequent in severe phenotypes of DGP, such as FCMD and MEB. Abnormal background activities were the most common EEG patterns, which were closely related to type II lissencephaly.
明确肌聚糖病（DGP）的癫痫发作类型、表型及视频脑电图（V-EEG）模式，并将其与神经放射学和遗传学结果相关联。
从2010年1月至2021年3月我们的肌聚糖病数据库中筛选出癫痫患者。收集详细的临床信息，包括癫痫发作类型、脑磁共振成像（MRI）、脑电图和基因分析。
13例患者（15.1%，13/86）有癫痫发作。大多数患者有严重的表型。首次癫痫发作的平均年龄为2岁8个月。最常见的癫痫发作类型是全身强直阵挛发作（GTCS），92.3%（12/13）由发热诱发。3例患者被诊断为癫痫。大多数患者未服用任何药物。少数患者不规则使用抗癫痫药物（ASMs）。13例患者中，7例被诊断为肌肉-眼-脑病（MEB），4例有POMGNT1突变，2例有ISPD突变，1例有POMT1突变。3例患者因FKTN突变被诊断为福山型先天性肌营养不良（FCMD）。2例患者被诊断为先天性肌营养不良伴脑畸形（CMD-MR），1例有ISPD突变，1例有POMT1突变。1例患者因FKRP突变被诊断为肢带型肌营养不良（LGMD）。9例患者进行了脑电图检查，8例患者脑电图结果异常，包括3例背景活动异常，3例背景活动异常合并阵发性放电，1例单纯阵发性放电，1例枕区正相尖波。放射学方面，12例患者有脑MRI检查结果。9例患者的脑MRI显示Ⅱ型无脑回畸形。2例患者显示小脑发育不全和脑干发育不全。1例患者脑MRI结果正常。Ⅱ型无脑回畸形患者通常有背景活动异常和阵发性放电。
肌聚糖病（DGP）的癫痫表型以GTCS为特征，这是最常见的癫痫发作类型，而局灶性发作和癫痫性痉挛在DGP患者中也可能发生。大多数发作由发热诱发。在DGP的严重表型如FCMD和MEB中癫痫发作相对更频繁。背景活动异常是最常见的脑电图模式，这与Ⅱ型无脑回畸形密切相关。
