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Abstract：
Danon disease is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by defects in the lysosome-associated membrane protein-2 (LAMP2) gene. Numerous different mutations in the LAMP2 protein have been described. Danon disease is typically lethal by the mid-twenties in male patients due to cardiomyopathy and heart failure. Female patients usually present with milder and variable symptoms. This report describes a 42-year-old father and his 3-year-old daughter presenting with mild manifestations of the disease. The father has normal intellectual development and normal physical activity. At the age of 13, he was diagnosed with mild ventricular pre-excitation known as Wolf-Parkinson-White syndrome (WPWs), very mild and mostly asymptomatic cardiomyopathy and left ventricular hypertrophy, and at about the age of 25 presented with visual impairment due to cone-rod dystrophy. His daughter showed normal development and very mild asymptomatic electrocardiographic WPWs abnormalities with left mild ventricular hypertrophy. Genetic testing revealed an Xq24 microdeletion encompassing the entire LAMP2 gene. Relevant literature was reviewed as a reference for the etiology, diagnosis, treatment and case management.
摘要：
Danon病是一种罕见的X连锁显性多系统疾病，具有严重心肌病的临床三联症，骨骼肌病,智力残疾。它是由溶酶体相关膜蛋白2（LAMP2）基因的缺陷引起的。已经描述了LAMP2蛋白中的许多不同突变。由于心肌病和心力衰竭，男性患者的Danon病通常在二十多岁时致命。女性患者通常表现为轻度和多变的症状。该报告描述了一位42岁的父亲和他3岁的女儿，表现出轻度的疾病表现。父亲智力发育正常，身体活动正常。13岁时，他被诊断出患有轻度心室预激，称为Wolf-Parkinson-White综合征（WPWs）。非常轻微且大部分无症状的心肌病和左心室肥大，在25岁左右时，由于视锥棒营养不良而出现视力障碍。他的女儿表现出正常的发育和非常轻度的无症状的心电图WPWs异常，伴有轻度的左心室肥大。基因检测显示Xq24微缺失包含整个LAMP2基因。回顾了相关文献，作为病因的参考，诊断,治疗和病例管理。
