METHODS: We report about a 61-year-old Western European man with myalgia, myxedema and pseudohypertrophy of the calf muscles. Laboratory tests revealed significantly elevated thyroid stimulating hormone (TSH) and creatine kinase (CK). Muscle MRI showed muscular hypertrophy of the lower limbs, but no signs of myositis or myopathy (no gadolinium enhancement, no edema, no fatty degeneration). In addition, electromyography (EMG) detected spontaneous activity. After the beginning of thyroxin-therapy it took six months until the muscle weakness improved and the myalgia regressed.
CONCLUSIONS: Here, we focus on diagnostic routines and typical findings to differentiate Hoffmann\'s syndrome from other myopathies. Clinical hallmarks of Hoffmann\'s syndrome are pseudohypertrophy and weakness of the calf muscles in combination with elevated CK and elevated TSH. EMG is well suited to detect the involvement of the muscles and muscle MRI helps to differentiate it from other myopathies. Hoffmann\'s syndrome is a rare myopathy due to hypothyroidism and plays a role in the differential diagnosis of myopathic complaints even if hypothyroidism has not been detected before.
方法:我们报告了一名61岁的西欧男子患有肌痛,小腿肌肉的粘液水肿和假性肥大。实验室检查显示促甲状腺激素(TSH)和肌酸激酶(CK)显着升高。肌肉MRI显示下肢肌肉肥大,但没有肌炎或肌病的迹象(没有钆增强,没有水肿,无脂肪变性)。此外,肌电图(EMG)检测到自发活动。开始甲状腺素治疗后,需要六个月的时间才能改善肌肉无力,肌痛消退。
结论:这里,我们将重点放在Hoffmann综合征与其他肌病的鉴别诊断常规和典型发现上.霍夫曼综合征的临床特征是假性肥大和小腿肌肉无力,并伴有CK升高和TSH升高。EMG非常适合检测肌肉的受累,肌肉MRI有助于将其与其他肌病区分开。霍夫曼综合征是一种罕见的甲状腺功能减退症肌病,即使以前未发现甲状腺功能减退症,也在肌病症状的鉴别诊断中起作用。