Müller-Felber W, Zafiriou D, Scheck R, Pätzke I, Toepfer M, Pongratz D E, Walther U
Friedrich-Baur-Institut, University of Munich, Germany.
Neuropediatrics. 1998 Apr;29(2):97-101. doi: 10.1055/s-2007-973542.
Four children from two families with characteristics of Marinesco-Sjögren syndrome (congenital cataract, ataxia) are presented. All children had clinical and neurophysiological signs of a demyelinating polyneuropathy. Three of them developed acute rhabdomyolysis with marked weakness and CK levels of up to 40,000 U/I following a viral infection. In all children CK levels returned to normal within two weeks. Symptoms were recurrent in one of the children and resulted in a severe disability. In two other children recovery of motor function took about a month following the first attack. Metabolic disorders of the muscle were excluded by pathobiochemical examination of a muscle biopsy in one of the children. In conclusion, acute rhabdomyolysis can occur as a neuromuscular complication of Marinesco-Sjögren syndrome.
本文介绍了来自两个家庭的四名患有 Marinesco-Sjögren 综合征（先天性白内障、共济失调）特征的儿童。所有儿童均有脱髓鞘性多发性神经病的临床和神经生理学体征。其中三名儿童在病毒感染后发生急性横纹肌溶解，伴有明显无力，肌酸激酶（CK）水平高达 40,000 U/I。所有儿童的 CK 水平在两周内恢复正常。其中一名儿童症状复发，导致严重残疾。另外两名儿童在首次发作后约一个月运动功能恢复。通过对其中一名儿童的肌肉活检进行病理生化检查，排除了肌肉代谢紊乱。总之，急性横纹肌溶解可作为 Marinesco-Sjögren 综合征的神经肌肉并发症发生。
