Kutluk Gultekin, Kadem Naz, Bektas Omer, Eroglu Hatice Nur
Antalya Training and Research Hospital, Pediatric Neurology Clinic, Ankara, Turkey.
Antalya Training and Research Hospital, Pediatrics Clinic, Ankara, Turkey.
Ann Indian Acad Neurol. 2020 Sep-Oct;23(5):694-696. doi: 10.4103/aian.AIAN_98_19. Epub 2020 Dec 8.
Megaconial congenital muscular dystrophy (OMIM 602541) is defined by early-onset hypotonia, mildly elevated serum creatine kinase (CK) levels, muscle wasting, cardiomyopathy, psychomotor developmental delay and intellectual disability. The disease is caused by loss-of-function mutations in Choline kinase beta gene (CHKB) and has specific muscle biopsy findings. Here we investigate two patients with weakness of proximal muscles and generalized muscle atrophy, skin changes, agressiveness, social communication and empathy difficulties. Both patients had mildly elevated serum CK levels. Whole exome sequencing (WES) performed for both patients and homozygous c.818+1G>A and homozygous c.1031+1G>A variants were detected in patient 1 and patient 2, respectively. We would like to draw the attention of autism spectrum disorder in early diagnosis of congenital muscular dystrophies.
巨核性先天性肌营养不良（OMIM 602541）的定义为早发性肌张力减退、血清肌酸激酶（CK）水平轻度升高、肌肉萎缩、心肌病、精神运动发育迟缓及智力残疾。该疾病由胆碱激酶β基因（CHKB）功能丧失性突变引起，并有特定的肌肉活检结果。在此，我们研究了两名近端肌无力、全身肌肉萎缩、皮肤改变、攻击性、社交沟通及共情困难的患者。两名患者血清CK水平均轻度升高。对两名患者进行了全外显子测序（WES），分别在患者1和患者2中检测到纯合的c.818+1G>A和纯合的c.1031+1G>A变异。我们希望在先天性肌营养不良的早期诊断中引起对自闭症谱系障碍的关注。
