Life-threatening muscle complications of COL4A1-related disorder

COL4A1-related disorder is recognized as a systemic disease because the alpha 1 chain of type IV collagen, encoded by COL4A1, is essential for basement membrane stability. However, muscular manifestations related to this disorder are rarely reported. We report the case of a 2-year-old boy with porencephaly, who harbored a de novo COL4A1 mutation of c.1853G > A, p. (Gly618Glu) and exhibited recurrent rhabdomyolysis with viral or bacterial infections. Moreover, he developed obstructive hypertrophic cardiomyopathy which required surgical intervention. Skeletal muscle biopsy revealed findings compatible with fiber-type disproportion. Ultrastructural study demonstrated the similar findings previously reported in mice with Col4a1 mutation including collagen disarray and reduction of electron density in the basement membrane of capillary endothelial cells and muscle fibers. Dilated endoplasmic reticulum in the capillary endothelial cells is also noted. This report adds another disease spectrum of COL4A1 mutation which include porencephaly, hypertrophic cardiomyopathy, rhabdomyolysis and fiber-type disproportion.     

小龙虾相关横纹肌溶解综合征90例临床分析

目的 探讨小龙虾相关横纹肌溶解综合征（RM）患者的临床特点、治疗和预后。方法 收集2016年6~8月马鞍山市人民医院收治的90例进食小龙虾后发生RM的患者资料，观察分析流行病学特点、临床表现、实验室指标如肌酶、尿常规、肾功能、电解质等变化情况、治疗措施及预后。结果 所有患者发病前24 h内均有食用小龙虾史，表现为全身性或局部肌肉疼痛，但均无发热、呕吐、四肢抽搐，实验室检查肌酸激酶（CK）、天门冬氨酸氨基转移酶（AST）、乳酸脱氢酶（LDH）和肌红蛋白（Mb）均明显高于正常值，但男女分组检验CK、Mb、AST、LDH等指标，差异均无统计学意义（P均>0.05），给予补液、碱化尿液等治疗，患者均未发生急性肾损伤，无死亡病例。结论 小龙虾相关RM是一种以肌肉疼痛为主要症状，严重并发症少的横纹肌溶解症，通过补液、碱化尿液等治疗，预后良好。