Zuckerman David A, Beaudreault Cameron P, Muh Carrie R, McGoldrick Patricia E, Wolf Steven M
1New York Medical College, Valhalla, New York.
2Department of Neurosurgery, Westchester Medical Center, Valhalla, New York.
J Neurosurg Case Lessons. 2023 Nov 27;6(22). doi: 10.3171/CASE23334.
Myasthenia gravis (MG) is an autoimmune disorder in which the postsynaptic acetylcholine receptor of the neuromuscular junction is destroyed by autoantibodies. The authors report a case of MG in a pediatric patient who also suffered from Lennox-Gastaut syndrome (LGS) and is one of a limited number of pediatric patients who have undergone placement of a responsive neurostimulation (RNS) device (NeuroPace).
A 17-year-old female underwent placement of an RNS device for drug-resistant epilepsy in the setting of LGS. Five months after device placement, the patient began experiencing intermittent slurred speech, fatigue, and muscle weakness. Initially, the symptoms were attributed to increased seizure activity and/or medication side effects. However, despite changing medications and RNS settings, no improvements occurred. Her antiacetylcholine receptor antibodies measured 62.50 nmol/L, consistent with a diagnosis of MG. The patient was then prescribed pyridostigmine and underwent a thymectomy, which alleviated most of her symptoms.
The authors share the cautionary tale of a case of MG in a pediatric patient who was treated with RNS for intractable epilepsy associated with LGS. Although slurred speech, fatigue, muscle weakness, and other symptoms might stem from increased seizure activity and/or medication side effects, they could also be due to MG development.
重症肌无力（MG）是一种自身免疫性疾病，其中神经肌肉接头处的突触后乙酰胆碱受体被自身抗体破坏。作者报告了一例患有 Lennox-Gastaut 综合征（LGS）的儿科重症肌无力患者，该患者是少数接受了反应性神经刺激（RNS）设备（NeuroPace）植入的儿科患者之一。
一名 17 岁女性因 LGS 导致的耐药性癫痫接受了 RNS 设备植入。设备植入五个月后，患者开始出现间歇性言语不清、疲劳和肌肉无力。最初，这些症状被归因于癫痫活动增加和/或药物副作用。然而，尽管改变了药物和 RNS 设置，症状并未改善。她的抗乙酰胆碱受体抗体测量值为 62.50 nmol/L，符合重症肌无力的诊断。随后该患者被开了吡啶斯的明并接受了胸腺切除术，这缓解了她的大部分症状。
作者分享了一例患有 LGS 相关难治性癫痫并接受 RNS 治疗的儿科重症肌无力患者的警示案例。尽管言语不清、疲劳、肌肉无力和其他症状可能源于癫痫活动增加和/或药物副作用，但它们也可能是由于重症肌无力的发展。
