Pompe’s Disease in Siblings Taking Enzyme Replacement Therapy: Skeletal Muscle Magnetic Resonance Imaging Findings
FNY Sin, AB Lo, CM Lee
Hong Kong J Radiol 2013;16:155-60
DOI: 10.12809/hkjr1312113
Pompe’s disease is a rare inherited muscle disorder resulting from deficiency of lysosomal acid α-glucosidase. This report describes the muscle magnetic resonance imaging findings in two young adults with late-onset Pompe’s disease. A specific pattern of muscle involvement has been described in multiple inherited muscle disorders, including Pompe’s disease. With the advent of enzyme replacement therapy, increased utilisation of imaging for diagnosis, monitoring of disease progress, and treatment response are expected. This article emphasises the importance of magnetic resonance imaging in screening the skeletal muscle in this disease and describes the development of new imaging techniques.
中文摘要
接受酵素替代療法的一對同胞的龐貝氏症：骨骼肌磁共振成像特徵
單雅怡、羅彪、李昭文
龐貝氏症是因缺乏溶酶體的酸性α-葡萄糖苷酶而導致的一種罕見遺傳性肌肉異常疾病。本文報告 兩名晚發型龐貝氏症的青少年患者，描述其肌肉磁共振成像特徵；闡述多種遺傳性疾病（包括龐貝 氏症）中肌肉異常病變的特殊模式。隨著酵素替代療法的出現，疾病診斷、病情監測、評價治療反 應等過程中影像技術的應用率有望提高。本文重點討論磁共振成像檢查龐貝氏症骨骼肌異常的重要 性，並介紹了新型影像技術的發展。