Xuanwu Hospital, Capital Medical University, Beijing, China.
Peking University People's Hospital, Beijing, China.
J Clin Sleep Med. 2023 Feb 1;19(2):409-414. doi: 10.5664/jcsm.10310.
Niemann-Pick disease type C (NPC) is an autosomal recessive hereditary disease in which sphingomyelin and cholesterol are deposited in various organs of the body. The clinical manifestations of NPC include neurologic symptoms and cataplexy; other symptoms related to sleep have seldom been reported. One previous study described various sleep disorders including chronic insomnia, obstructive sleep apnea, restless legs syndrome, and rapid eye movement sleep behavior disorder, thus suggesting that sleep disorders in patients with NPC are more prevalent than previously thought and warrant close attention. Here, we describe sleep disorders in 2 patients with NPC and discuss the clinical characteristics and, for the first time, discuss potential pathogenic mechanisms underlying sleep disorders in such patients.
Zhang Y, Cheng Y, Li N, et al. Central sleep apnea and daytime sleepiness in Niemann-Pick type C disease: a report of 2 cases. . 2023;19(2):409-414.
尼曼-匹克病 C 型（NPC）是一种常染色体隐性遗传性疾病，鞘磷脂和胆固醇在体内各种器官中沉积。NPC 的临床表现包括神经症状和猝倒；其他与睡眠相关的症状很少有报道。一项先前的研究描述了各种睡眠障碍，包括慢性失眠、阻塞性睡眠呼吸暂停、不宁腿综合征和快速眼动睡眠行为障碍，这表明 NPC 患者的睡眠障碍比以前认为的更为普遍，需要密切关注。在这里，我们描述了 2 例 NPC 患者的睡眠障碍，并讨论了其临床特征，并且首次讨论了此类患者睡眠障碍的潜在发病机制。
Zhang Y, Cheng Y, Li N, et al. Central sleep apnea and daytime sleepiness in Niemann-Pick type C disease: a report of 2 cases.. 2023;19(2):409-414.
