Cebeci Ayse Nurcan, Güven Ayla, Saltik Sema, Mesci Cem
J Pediatr Endocrinol Metab. 2013;26(7-8):747-51. doi: 10.1515/jpem-2012-0249.
Diffuse muscle hypertrophy is a rare complication of acquired hypothyroidism. When accompanied by stiffness, weakness, and painful muscle cramps, the condition is known as Hoffmann's syndrome (HS). HS is usually seen in young adults due to long-standing untreated primary hypothyroidism. We report a very rare case of HS with muscle hypertrophy and pituitary hyperplasia complicating hypothyroidism in an adolescent.
A 12-year-old male admitted with muscle pain, headache, and fatigue. He had marked hypertrophy of both calf and shoulder muscles. Laboratory tests indicated elevated muscle enzymes and lipids with an elevated thyrotropin and low thyroxine levels. Hashimoto thyroiditis was confirmed on thyroid studies. He had also papilledema bilaterally and magnetic resonance imaging showed an enlargement of the pituitary gland. Treatment with thyroid hormone resulted in complete improvement of symptoms within 3 months.
HS is a rare but treatable form of acquired myopathies and can be seen in children due to untreated hypothyroidism. All patients with an acquired myopathy and muscular pseudohypertrophy should be screened regarding thyroid hormones.
弥漫性肌肉肥大是获得性甲状腺功能减退症的一种罕见并发症。当伴有僵硬、无力和疼痛性肌肉痉挛时，这种情况被称为霍夫曼综合征（HS）。HS通常见于因长期未经治疗的原发性甲状腺功能减退症的年轻成年人。我们报告了一例青少年罕见的HS病例，伴有肌肉肥大和垂体增生，并发甲状腺功能减退症。
一名12岁男性因肌肉疼痛、头痛和疲劳入院。他双侧小腿和肩部肌肉明显肥大。实验室检查显示肌肉酶和血脂升高，促甲状腺激素升高，甲状腺素水平降低。甲状腺检查确诊为桥本甲状腺炎。他还双侧视乳头水肿，磁共振成像显示垂体增大。甲状腺激素治疗3个月内症状完全改善。
HS是一种罕见但可治疗的获得性肌病形式，可因未治疗的甲状腺功能减退症在儿童中出现。所有患有获得性肌病和肌肉假性肥大的患者都应进行甲状腺激素筛查。
