Höller A, Albrecht U, Baumgartner Sigl S, Zöggeler T, Ramoser G, Bernar B, Karall D, Scholl-Bürgi S
Service for Nutrition and Dietetics, University Hospital Innsbruck, Tyrolean State Hospitals, Austria.
Department of Pediatrics I, Neuropediatrics, Medical University of Innsbruck, Austria.
Mol Genet Metab Rep. 2021 Feb 5;27:100723. doi: 10.1016/j.ymgmr.2021.100723. eCollection 2021 Jun.
Niemann-Pick disease type C (NP-C) is a neurodegenerative disease for which only palliative treatment exists, and only miglustat is effective in stabilizing neurological manifestations of NP-C. Ketogenic dietary therapies (KDT) are successfully used in patients with seizure disorders, including those associated with various inherited metabolic diseases (IMD), to reduce seizure frequency and medication requirement as well as to confer neuroprotection. Since patients with NP-C suffer pharmacorefractory seizures associated with ongoing neurodegeneration, KDT might be beneficial. The concomitant use of miglustat and KDT in patients with NP-C has not been reported.
We describe our experience in a now 17-year-old female with NP-C manifest early in childhood who has been successfully and continuously treated with miglustat and KDT in a palliative care setting for 3y. Although the neurodegeneration of NP-C progressed, she benefited from a reduction in seizure activity, fewer hospital stays related to seizure exacerbation, and increased alertness.
KDT could be safely deployed in our patient with NP-C, in whom its effects have been beneficial. Generally KDT is demonstratedly efficacious in patients with epilepsy and IMD. It reduces seizure activity and medication requirements and confers neuroprotection. Intracellular cholesterol trafficking and regulation of cholesterol biosynthesis are impaired in NP-C, which may prompt caution with respect to dietary lipid intake.
C型尼曼-匹克病（NP-C）是一种神经退行性疾病，目前仅有姑息治疗方法，且只有米格鲁司他对稳定NP-C的神经症状有效。生酮饮食疗法（KDT）已成功应用于癫痫患者，包括那些与各种遗传性代谢疾病（IMD）相关的患者，以降低癫痫发作频率、减少药物需求并提供神经保护作用。由于NP-C患者患有与持续神经退行性变相关的药物难治性癫痫，KDT可能有益。尚未有关于NP-C患者同时使用米格鲁司他和KDT的报道。
我们描述了一名现年17岁的女性患者的情况，她在儿童早期就表现出NP-C，在姑息治疗环境中接受米格鲁司他和KDT联合治疗已成功持续3年。尽管NP-C的神经退行性变仍在进展，但她的癫痫活动减少、因癫痫发作加重而住院的次数减少且警觉性提高，从中受益。
KDT可安全应用于我们的NP-C患者，并对其产生了有益效果。一般来说，KDT在癫痫和IMD患者中已被证明是有效的。它可减少癫痫活动和药物需求并提供神经保护作用。NP-C患者存在细胞内胆固醇转运和胆固醇生物合成调节受损的情况，这可能需要在饮食脂质摄入方面谨慎对待。
