Department of Neurology, Jena University Hospital, Friedrich Schiller University, Am Klinikum 1, 07747, Jena, Germany.
Clinical Scientist Program OrganAge, Jena University Hospital, Jena, Germany.
J Med Case Rep. 2023 Oct 31;17(1):473. doi: 10.1186/s13256-023-04184-6.
Hoffmann's syndrome is a rare form of hypothyroid myopathy in adults, which is mainly characterized by muscular weakness and muscular pseudohypertrophy.
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.
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.
霍夫曼综合征是一种罕见的成人甲状腺功能减退性肌病，主要表现为肌肉无力和假性肌肉肥大。
我们报告了一例 61 岁的西欧男性，表现为肌肉疼痛、黏液性水肿和小腿假性肥大。实验室检查显示甲状腺刺激激素（TSH）和肌酸激酶（CK）显著升高。肌肉 MRI 显示下肢肌肉肥大，但无肌炎或肌病的迹象（无钆增强、无水肿、无脂肪变性）。此外，肌电图（EMG）检测到自发性活动。开始甲状腺素治疗后，肌肉无力和肌痛改善用了 6 个月的时间。
在这里，我们重点介绍了诊断程序和典型表现，以将霍夫曼综合征与其他肌病区分开来。霍夫曼综合征的临床特征是小腿假性肥大和无力，同时伴有 CK 和 TSH 升高。EMG 非常适合检测肌肉受累情况，肌肉 MRI 有助于将其与其他肌病区分开来。霍夫曼综合征是一种罕见的甲状腺功能减退性肌病，即使在之前未发现甲状腺功能减退的情况下，它在肌病性主诉的鉴别诊断中也起着重要作用。
