Qureshi Waseem, Hassan Ghulam, Khan Ghulam Qadir, Kadri Syed Manzoor, Kak Manish, Ahmad Manzoor, Tak Shahid, Kundal Darshan Lal, Hussain Showkat, Rather Abdul Rashid, Masoodi Ibrahim, Sikander Sabia
SMHS Hospital, Srinagar, Kashmir, India.
Ger Med Sci. 2005 Jul 20;3:Doc05.
This syndrome is characterized by the presence of hypothyroidism with myxoedema, muscle stiffness and pseudo hypertrophy. We describe the disorder in a 21 year old male, who got admitted with complaints of generalized weakness, cold intolerance, constipation, and hoarse voice, difficulty in walking and progressive enlargement of muscles of thighs and back with crampy pains for two years. Examination revealed mild mental retardation, enlarged tongue, dry and rough skin, enlargement of thighs and back muscles, motor weakness in flexors of hips and knees with delayed relaxation of deep tendon reflexes. Investigations revealed evidence of hypothyroidism with marked elevation of muscle enzymes. Following institution of replacement therapy with thyroxine, the patient showed marked clinical and biochemical improvements after six months, but insignificant decrease in muscle mass. In this report we review relevant literature.
该综合征的特征为伴有黏液性水肿的甲状腺功能减退、肌肉僵硬和假性肥大。我们描述了一名21岁男性的这种疾病，他因全身无力、畏寒、便秘、声音嘶哑、行走困难以及大腿和背部肌肉进行性增大并伴有痉挛性疼痛两年而入院。检查发现轻度智力发育迟缓、舌头肿大、皮肤干燥粗糙、大腿和背部肌肉增大、髋部和膝部屈肌运动无力以及深腱反射松弛延迟。检查显示甲状腺功能减退的证据以及肌肉酶显著升高。在用甲状腺素进行替代治疗后，患者在六个月后临床和生化方面有明显改善，但肌肉量减少不明显。在本报告中，我们回顾了相关文献。
