Cardas Ruxandra, Iliescu Catrinel, Butoianu Nina, Seferian Andreea, Gataullina Svetlana, Gargaun Elena, Nectoux Juliette, Bienvenu Thierry, Craiu Dana, Gidaro Teresa, Servais Laurent
I-Motion, Platform for Pediatric Clinical Trials, Arnold Trousseau Hospital, Paris, France; "Prof. Dr. Al. Obregia" Hospital, Bucharest, Romania.
"Prof. Dr. Al. Obregia" Hospital, Bucharest, Romania; Clinical Neurosciences Department, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.
Neuromuscul Disord. 2017 Oct;27(10):911-913. doi: 10.1016/j.nmd.2017.07.008. Epub 2017 Jul 19.
Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy. The multiple dystrophin isoforms expressed in brain have important roles in cerebral development and functioning. The association of Duchenne Muscular Dystrophy with seizures has been reported, and there is a higher prevalence of epilepsy in Duchenne Muscular Dystrophy patients (between 6.3% and 12.3%) than in the general pediatric population (0.5-1%). Duchenne Muscular Dystrophy patients may present with focal seizures, generalized tonic-clonic seizures or absences. We report on two boys in whom Duchenne Muscular Dystrophy is associated with epileptic spasms and hypsarrhythmia that fulfil the criteria for West syndrome, thus extending the spectrum of seizure types described in Duchenne Muscular Dystrophy patients.
杜氏肌营养不良症（DMD）是儿童期最常见的肌营养不良症，全球活产男婴中的发病率为五千分之一。它是由肌营养不良蛋白基因突变导致全长肌营养不良蛋白缺失所引起的。中枢神经系统受累在杜氏肌营养不良症中是众所周知的。在大脑中表达的多种肌营养不良蛋白异构体在大脑发育和功能中发挥着重要作用。杜氏肌营养不良症与癫痫发作之间的关联已有报道，而且杜氏肌营养不良症患者中癫痫的患病率（6.3%至12.3%）高于普通儿科人群（0.5 - 1%）。杜氏肌营养不良症患者可能出现局灶性癫痫发作、全身性强直阵挛性发作或失神发作。我们报告了两名患有杜氏肌营养不良症且伴有癫痫性痉挛和高度失律的男孩，他们符合韦斯特综合征的标准，从而扩展了杜氏肌营养不良症患者中所描述的癫痫发作类型范围。
