Sardarzada Javid, Anlar Banu
Pediatric Neurology, Leyla Medical Center, Baku, AZE.
Pediatric Neurology, Güven Hospital, Ankara, TUR.
Cureus. 2024 Sep 8;16(9):e68961. doi: 10.7759/cureus.68961. eCollection 2024 Sep.
Juvenile myasthenia gravis is a rare disorder where antibodies targeting the acetylcholine receptor or, less frequently, muscle-specific kinase can be detected in the serum while about half of the patients can be seronegative. A pediatric patient with ocular myasthenia is presented whose serum was negative for acetylcholine receptor and muscle-specific kinase antibodies but tested positive for low-density lipoprotein receptor-related protein 4 antibodies. A favourable clinical response was observed to medical treatment with pyridostigmine and prednisolone, as expected in isolated ocular juvenile myasthenia gravis. This case exemplifies the very rare association of juvenile myasthenia gravis with low-density lipoprotein receptor-related protein 4 positivity, reported in only a few cases so far. The specificity of the antibody and the efficiency of medical treatment emphasize the importance of clinical suspicion and appropriate serological testing in juvenile myasthenia gravis in the absence of acetylcholine receptor and muscle-specific kinase antibodies.
青少年型重症肌无力是一种罕见的疾病，血清中可检测到靶向乙酰胆碱受体的抗体，较少情况下可检测到肌肉特异性激酶抗体，约一半的患者血清学检查可能为阴性。本文报告了一名患有眼肌型重症肌无力的儿科患者，其血清中乙酰胆碱受体和肌肉特异性激酶抗体呈阴性，但低密度脂蛋白受体相关蛋白4抗体检测呈阳性。正如孤立性眼肌型青少年型重症肌无力所预期的那样，使用吡啶斯的明和泼尼松龙进行药物治疗后观察到了良好的临床反应。该病例体现了青少年型重症肌无力与低密度脂蛋白受体相关蛋白4阳性这一极为罕见的关联，迄今为止仅有少数病例报道。抗体的特异性和药物治疗的效果强调了在青少年型重症肌无力患者缺乏乙酰胆碱受体和肌肉特异性激酶抗体时，临床怀疑和适当的血清学检测的重要性。
