Razeq Ahmed, Ahmad Samiya
Baylor College of Medicine, San Antonio, TX USA.
Child Neurol Open. 2021 Sep 27;8:2329048X211036546. doi: 10.1177/2329048X211036546. eCollection 2021 Jan-Dec.
Duchene muscular dystrophy (DMD) is the most common muscular dystrophy in childhood, affecting ∼1:5000 male live births worldwide. DMD is a genetic disorder with X-linked recessive inheritance pattern characterized by a severe muscular phenotype with progressive muscle weakness and atrophy due to pathogenic variations within the DMD gene. Two cases are reported to date in the literature of individuals with a diagnosis of both DMD and West syndrome; neither of which had the degree of additional genetic abnormalities that our patient demonstrates. We present a male infant with West syndrome, and multiple pathogenic variants, the ominous one being in the DMD gene. This case adds to confirming that West syndrome expands the spectrum of epilepsy that may be present in DMD patients. Additionally, this case can identify how the early use of steroids may shed light on effects of early symptomatic treatment of DMD.
杜氏肌营养不良症（DMD）是儿童期最常见的肌营养不良症，全球每5000例男性活产中约有1例受影响。DMD是一种具有X连锁隐性遗传模式的遗传性疾病，其特征是由于DMD基因内的致病性变异而导致严重的肌肉表型，伴有进行性肌肉无力和萎缩。迄今为止，文献报道了2例同时诊断为DMD和韦斯特综合征的个体；这两例均没有我们患者所表现出的额外遗传异常程度。我们报告了一名患有韦斯特综合征且有多个致病变异的男婴，其中不祥的一个变异存在于DMD基因中。该病例进一步证实韦斯特综合征扩大了DMD患者可能出现的癫痫谱。此外，该病例可以确定早期使用类固醇如何有助于了解DMD早期症状治疗的效果。
