Sleep disorders in cerebrotendinous xanthomatosis: A case series

IF 3.8 2区医学 Q1 CLINICAL NEUROLOGY

Sleep medicine Pub Date : 2024-10-29 DOI:10.1016/j.sleep.2024.10.034

Liandra Rayanne de Sousa Barbosa , Antônio Edvan Camelo-Filho , Pedro Lucas Grangeiro de Sá Barreto Lima , Alissa Elen Formiga Moura , Andre Luis Santos Pessoa , Pedro Braga-Neto , Manoel Alves Sobreira-Neto , Paulo Ribeiro Nóbrega

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引用次数: 0

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder characterized by a variety of neurological and systemic symptoms, including cerebellar ataxia, cataracts, tendon xanthomas, and polyneuropathy. This study aimed to investigate sleep patterns and disorders in four patients diagnosed with cerebrotendinous xanthomatosis. All participants reported significant sleep disturbances, and objective assessments confirmed the presence of insomnia, excessive daytime sleepiness, obstructive sleep apnea, and periodic limb movements. Notably, this is the first study to incorporate sleep assessments into the clinical management of CTX patients, which may be crucial for improving their quality of life. Further research is warranted to deepen our understanding of the potential impact of cholestanol deposits on regions of the central nervous system involved in sleep and circadian rhythm regulation.

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脑膜黄瘤病的睡眠障碍：病例系列

脑腱鞘黄瘤病（CTX）是一种罕见的遗传性疾病，以多种神经和全身症状为特征，包括小脑共济失调、白内障、腱鞘黄瘤和多发性神经病。本研究旨在调查四名确诊为脑腱索黄瘤病患者的睡眠模式和障碍。所有参与者都报告了严重的睡眠障碍，客观评估证实了失眠、白天过度嗜睡、阻塞性睡眠呼吸暂停和周期性肢体运动的存在。值得注意的是，这是第一项将睡眠评估纳入 CTX 患者临床管理的研究，这可能对改善患者的生活质量至关重要。为了加深我们对胆固醇沉积对中枢神经系统中涉及睡眠和昼夜节律调节的区域的潜在影响的了解，我们有必要开展进一步的研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Sleep medicine 医学-临床神经学

CiteScore

8.40

自引率

6.20%

发文量

1060

审稿时长

49 days

期刊介绍： Sleep Medicine aims to be a journal no one involved in clinical sleep medicine can do without. A journal primarily focussing on the human aspects of sleep, integrating the various disciplines that are involved in sleep medicine: neurology, clinical neurophysiology, internal medicine (particularly pulmonology and cardiology), psychology, psychiatry, sleep technology, pediatrics, neurosurgery, otorhinolaryngology, and dentistry. The journal publishes the following types of articles: Reviews (also intended as a way to bridge the gap between basic sleep research and clinical relevance); Original Research Articles; Full-length articles; Brief communications; Controversies; Case reports; Letters to the Editor; Journal search and commentaries; Book reviews; Meeting announcements; Listing of relevant organisations plus web sites.