Abstract Adult onset Niemann- Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder that presents with heterogenous neuropsychiatric symptoms. Because of the variation of presentations, the diagnosis is often delayed or overlooked. Another treatment challenge is that currently there is only one FDA approved treatment, Miglustat, a reversible glycosphingolipid synthesis inhibitor, and it takes up to six months for therapeutic effect. We present a case report of a 27 year-old woman who was admitted to a medical hospital for inpatient work-up of altered mental status. Her initial symptoms were mild impairments in attention, bradykinesia, and ataxia that eventually progressed to an episode of acute encephalopathy with psychosis and catatonia. She underwent a comprehensive neurologic and medical work-up which was non-revealing, and then had genetic testing which revealed NPC. She was trialed on multiple medications in an attempt to manage her neuropsychiatric symptoms with minimal benefit. The decision was made to proceed with electroconvulsive therapy (ECT) with marked improvement in her symptoms after just one treatment, and continued response throughout all 18 treatments she has received thus far. While the patient has had relapses in her encephalopathic symptoms during the course of ECT treatments, additional ECT treatments following have been the most effective in returning her to her new baseline and allowing her to remain functional during this time.

中文翻译：

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成人发作 Niemann-Pick C 型神经精神症状的诊断挑战和电惊厥疗法治疗

摘要 成人发病的 C 型尼曼-匹克病 (NPC) 是一种罕见的常染色体隐性溶酶体贮积症，表现为异质性神经精神症状。由于表现的变化，诊断常常被延误或被忽视。另一个治疗挑战是，目前只有一种 FDA 批准的治疗方法 Miglustat，一种可逆的鞘糖脂合成抑制剂，治疗效果需要长达 6 个月的时间。我们提供了一个 27 岁女性的病例报告，她因精神状态改变而入院接受住院检查。她最初的症状是注意力轻度受损、运动迟缓和共济失调，最终发展为伴有精神病和紧张症的急性脑病发作。她接受了全面的神经系统和医学检查，但没有透露，然后进行了基因检测，发现了 NPC。她接受了多种药物的试验，试图以最小的益处控制她的神经精神症状。决定继续进行电休克疗法 (ECT)，仅进行一次治疗后，她的症状就得到了显着改善，并且在她迄今为止接受的所有 18 次治疗中都保持了持续的反应。虽然患者在 ECT 治疗过程中脑病症状复发，但随后的额外 ECT 治疗最有效地使她恢复到新的基线并在此期间保持功能。她接受了多种药物的试验，试图以最小的益处控制她的神经精神症状。决定继续进行电休克疗法 (ECT)，仅进行一次治疗后，她的症状就得到了显着改善，并且在她迄今为止接受的所有 18 次治疗中都保持了持续的反应。虽然患者在 ECT 治疗过程中脑病症状复发，但随后的额外 ECT 治疗最有效地使她恢复到新的基线并在此期间保持功能。她接受了多种药物的试验，试图以最小的益处控制她的神经精神症状。决定继续进行电休克疗法 (ECT)，仅进行一次治疗后，她的症状就得到了显着改善，并且在她迄今为止接受的所有 18 次治疗中都保持了持续的反应。虽然患者在 ECT 治疗过程中脑病症状复发，但随后的额外 ECT 治疗最有效地使她恢复到新的基线并在此期间保持功能。