Vitaliti G, Pavone P, Romano C, Barbagallo M, Vecchio M, Ledda C, Lubrano R, Falsaperla R
General Paediatrics O.U., Policlinico-Vittorio Emanuele University Hospital, University of Catania, Italy.
General Paediatrics O.U., Azienda Ospedaliera di Rilievo Nazionale e di Alta Specializzazione Garibaldi, Catania, Italy.
J Biol Regul Homeost Agents. 2016 Oct-Dec;30(4):1217-1221.
Congenital Muscular Dystrophies (CMDs) can be considered as a heterogeneous group of diseases characterized by marked weakness, generalized hypotonia and joint contractures. They are divided into pure and classical forms, without ocular and cerebral involvement, and complex forms, which are associated with cerebral abnormalities. Seizures have rarely been described in the pure forms while they seem to occur more frequently in complex forms. The aim of our study was to evaluate the incidence of seizure in CMD. Herein, the authors describe 16 cases of congenital muscular dystrophy (CMD) associated with different kinds of epileptic events, in order to study the pathogenic connection between the two clinical manifestations. In all described patients we reviewed the clinical, neurophysiologic, and neuroimaging data to determine any associations with epilepsy. The patients were divided into two groups: 14 cases with merosin positive CMD in one group and 2 patients with Walker Warburg syndrome (WWS) in the second group. In our study we found that in the first group, one benign myoclonic epilepsy (BME), one benign febrile convulsions had occurred. Also in one patient, the EEG revealed a moderately high voltage slow background with diffuse sharp waves reaching 300mV in amplitude with no clinical signs. In the merosin positive CMD patients, the presence of two different epileptic diseases, benign myoclonic epilepsy (BME) in one and febrile convulsion with tonic clinic seizures, may represent a new expression of merosine-positive congenital muscular disease (PCMD) in which the deficiency of an undiscovered muscular protein with a cerebral isoform may be the cause of epileptic events in this group of patients.
先天性肌营养不良（CMD）可被视为一组异质性疾病，其特征为明显的肌无力、全身性肌张力减退和关节挛缩。它们分为无眼部和脑部受累的单纯型和经典型，以及与脑部异常相关的复杂型。单纯型CMD很少有癫痫发作的描述，而复杂型CMD似乎更常出现癫痫发作。我们研究的目的是评估CMD中癫痫发作的发生率。在此，作者描述了16例与不同类型癫痫事件相关的先天性肌营养不良（CMD）病例，以研究这两种临床表现之间的致病联系。在所有描述的患者中，我们回顾了临床、神经生理学和神经影像学数据，以确定与癫痫的任何关联。患者分为两组：一组14例为merosin阳性CMD，另一组2例为沃克 - 沃尔堡综合征（WWS）。在我们的研究中，我们发现第一组中有1例良性肌阵挛性癫痫（BME）、1例良性热性惊厥发作。另外，1例患者的脑电图显示有中度高电压慢背景，伴有弥漫性尖波，波幅达300mV，无临床症状。在merosin阳性CMD患者中，出现两种不同的癫痫疾病，1例为良性肌阵挛性癫痫（BME），1例为伴有强直临床发作的热性惊厥，可能代表了merosine阳性先天性肌病（PCMD）的一种新表现形式，其中一种未被发现的具有脑异构体的肌肉蛋白缺乏可能是该组患者癫痫事件的原因。
