Transaminitis in a Three-year-old Boy with Duchenne Muscular Dystrophy

• Published in: Journal of clinical and translational hepatology Vol. 8; no. 4; pp. 474 - 2
• Main Authors: Xie, Qiuli, Feng, Yingen, Li, Jing, Chen, Xiaoqiao, Ding, Jianqiang
• Format: Journal Article
• Language: English
• Published: China Department of Infectious Diseases,Shunde Hospital,Southern Medical University,Shunde,Guangdong,China 28.12.2020; XIA & HE Publishing Inc
• Subjects: Case Report; Transaminitis; Duchenne muscular dystrophy; Gene sequencing
• ISSN: 2225-0719; 2310-8819
• DOI: 10.14218/JCTH.2020.00038

Duchenne muscular dystrophy (DMD) is a fatal X-linked genetic disease of the neuromuscular system and is the most serious type of muscular dystrophy in humans. The disease is characterized by progressive muscular atrophy and a poor prognosis. The incidence rate is 1/3500, and symptoms appear at age of 5 years-old. Some patients present with abnormal aminotransferases as the first symptom. In addition to the clinical characteristics and genetic history, electromyography examination, muscle biopsy, serum enzyme examination, and measures of creatine kinase (CK), CK isoenzyme, and serum lactate dehydrogenase are important features of auxiliary examination. Clinicians who encounter unknown causes of transaminitis should consider the possibility of DMD. We describe here a 3 year-old pediatric patient with increased aminotransferases who had elevated CK and a family genetic history but without liver damage on computed tomography. He was suspected as having inherited the disorder and was finally diagnosed as having DMD by next-generation sequencing.