磁共振成像(MRI)在肌病诊断中的广泛使用使阐明异常疾病的典型MRI模式成为可能。然而,尚未充分注意异常蛋白病的MRI模式的变异性。
方法:对25例有异常铁蛋白病临床表现的患者进行检查。对于所有患者来说,测量肌酸磷酸激酶水平并检查分子遗传学。在两个病人中,进行肌肉活检的免疫组织化学检查。MRI扫描包括T2多层多回波,T1加权,T2加权和短Tau反转恢复T2加权序列。对脂肪替代和肌肉肿胀进行了定量和半定量评估。
结果:MRI模式的变异性在骨盆和腿部肌肉中最低,在大腿肌肉中最高。区分了三种主要类型的MRI模式:后优势(80%),前优势(16%),和弥漫性(4%)。在前优势型患者中,胶原蛋白样变体(4%),近端变异型(4%)和假性肌炎(8%)分别进行了鉴别.
结论:认识到异常酶病的非典型MRI模式对于提高常规诊断的效率和优化寻找致病基因突变是重要的。
The widespread use of magnetic resonance imaging (MRI) in the diagnosis of myopathies has made it possible to clarify the typical MRI pattern of dysferlinopathy. However, sufficient attention has not been given to the variability of MRI patterns in dysferlinopathy.
METHODS: Twenty-five patients with the clinical manifestations of dysferlinopathy were examined. For all patients, creatine phosphokinase levels were measured and molecular genetics were examined. In two patients, immunohistochemical examinations of muscle biopsies were performed. MRI scanning was included T2 multi-slice multi-echo, T1 weighted, T2 weighted and Short Tau Inversion Recovery T2 weighted sequences. Quantitative and semi-quantitative evaluations of fatty replacement and swelling of the muscles were undertaken.
RESULTS: Variability in the MRI patterns was lowest in the pelvis and leg muscles and highest in the thigh muscles. Three main types of MRI patterns were distinguished: posterior-dominant (80%), anterior-dominant (16%), and diffuse (4%). Among patients with the anterior-dominant pattern, the collagen-like variant (4%), proximal variant (4%) and pseudo-myositis (8%) were separately distinguished.
CONCLUSIONS: Awareness of atypical MRI patterns in dysferlinopathy is important for increasing the efficiency of routine diagnostics and optimizing the search for causative gene mutations.