A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene

作者：Miao, Jing; Feng, Jia-chun; Zhu, Dan; Yu, Xue-fan^*

来源：BMC Neurology, 2016, 16(1): 255.

DOI：10.1186/s12883-016-0777-y

• Becker muscular dystrophy
• Epilepsy
• Dysgnosia
• Dystrophin
• Genetic analysis

Background: Becker muscular dystrophy (BMD), a genetic disorder of X-linked recessive inheritance, typically presents with gradually progressive muscle weakness. The condition is caused by mutations of Dystrophin gene located at Xp21.2. Epilepsy is an infrequent manifestation of BMD, while cases of BMD with dysgnosia are extremely rare.
Case presentation: We describe a 9-year-old boy with BMD, who presented with epilepsy and dysgnosia. Serum creatine kinase level was markedly elevated (3665 U/L). Wechsler intelligence tests showed a low intelligence quotient (IQ = 65). Electromyogram showed slight myogenic changes and skeletal muscle biopsy revealed muscular dystrophy. Immunohistochemical staining showed partial positivity of sarcolemma for dystrophin-N. Multiplex ligation-dependent probe amplification revealed a duplication mutation in exons 37-44 in the Dystrophin gene.
Conclusions: The present case report helps to better understand the clinical and genetic features of BMD.

• 出版日期2016-12-12
• 单位吉林大学