Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
Department of Paediatrics, IRCCS Giannina Gaslini Institute, Genoa, Italy.
J Neurol. 2021 Nov;268(11):4362-4369. doi: 10.1007/s00415-021-10794-1. Epub 2021 Sep 14.
Craniopharyngiomas are rare solid or mixed solid and cystic tumors that arise from Rathke's pouch remnants along the pituitary-hypothalamic axis, from the sella turcica to the brain third ventricle. Both the tumor and its treatment can lead to significant neurological and endocrinological complications. Due to the essential role of the hypothalamus in the complex neurophysiologic process of sleep, tumors involving the hypothalamic area may be responsible for disturbances in sleep-wake regulation with alterations in the circadian rhythm, sleep fragmentation, and increased daytime sleepiness. We report two cases of patients with craniopharyngioma, who came to our attention due to the occurrence of episodes characterized by psychomotor slowing and afinalistic limb movements, temporal and spatial disorientation, psychomotor agitation, and oneiric stupor like episodes. A comprehensive clinical data collection and a targeted diagnostic work-up led to a diagnosis of severe sleep disorder characterized by hypersomnia, altered sleep-wake rhythm, and sleep-related breathing disorder. In addition, the polysomnography revealed peculiar alterations in the sleep structure. The diagnostic work-up lead to an accurate differential diagnosis between epileptic seizures and episodes expressions of sleep disturbances. These clinical features can be challenging to diagnose and can lead to misdiagnosis and inappropriate treatment. Diagnosis of sleep disorders is crucial, considering the impact of sleep on general health, cognition, and neuropsychological functioning. These findings support the need to incorporate a comprehensive sleep evaluation in childhood brain tumor involving the suprasellar/hypothalamic region.
颅咽管瘤是一种罕见的实体或混合实体和囊性肿瘤,起源于沿垂体下丘脑轴的 Rathke 囊残余物,从蝶鞍到脑第三脑室。肿瘤及其治疗都可能导致严重的神经和内分泌并发症。由于下丘脑在睡眠这一复杂神经生理过程中的重要作用,涉及下丘脑区域的肿瘤可能导致睡眠-觉醒调节紊乱,表现为昼夜节律改变、睡眠碎片化和白天嗜睡增加。我们报告了两例颅咽管瘤患者的病例,他们因出现以运动迟缓、最终性肢体运动、时间和空间定向障碍、精神运动激越和梦幻性昏迷样发作为特征的发作而引起我们的注意。全面的临床资料收集和有针对性的诊断性检查导致严重睡眠障碍的诊断,表现为嗜睡、睡眠-觉醒节律改变和与睡眠相关的呼吸障碍。此外,多导睡眠图显示出睡眠结构的特殊改变。诊断性检查有助于在癫痫发作和睡眠障碍发作之间做出准确的鉴别诊断。这些临床特征可能难以诊断,并可能导致误诊和不适当的治疗。考虑到睡眠对整体健康、认知和神经心理功能的影响,诊断睡眠障碍至关重要。这些发现支持在涉及鞍上/下丘脑区域的儿童脑肿瘤中纳入全面的睡眠评估。