Pesce Alessandro, Taddei Graziano, Palmieri Mauro, Ciarlo Silvia, Carnevale Rita, Elia Stefania, Pompucci Angelo, Petrella Gianpaolo
Department of Systems Medicine, Univerisity of Rome, Tor Vergata, Italy.
Department of Neurosurgery, Santa Maria Goretti Hospital, Latina, Italy.
J Neurol Surg A Cent Eur Neurosurg. 2025 Nov;86(6):591-595. doi: 10.1055/s-0045-1810046. Epub 2025 Aug 5.
Idiopathic normal-pressure hydrocephalus shows a typical clinical triad consisting of gait disturbance, dementia, and urinary incontinence, often combined with ventriculomegaly. Fortunately, these clinical manifestations are potentially reversible by adequate surgical treatment. Men affected by Klinefelter's syndrome can present cognitive problems. These include impairments in both verbal and nonverbal memory and in executive functions, which could be related to idiopathic normal-pressure hydrocephalus in these patients. In this study, we describe the case of a 62-year-old-man genetically diagnosed with Klinefelter's syndrome with a history of gait ataxia resulting in recurrent falls. Direct associations between idiopathic normal-pressure hydrocephalus and Klinefelter's syndrome and clinical pathophysiologic and potential molecular implications are discussed.
特发性正常压力脑积水表现出典型的临床三联征，包括步态障碍、痴呆和尿失禁，常伴有脑室扩大。幸运的是，通过适当的手术治疗，这些临床表现可能是可逆的。患有克兰费尔特综合征的男性可能会出现认知问题。这些问题包括言语和非言语记忆以及执行功能的损害，这可能与这些患者的特发性正常压力脑积水有关。在本研究中，我们描述了一名62岁男性的病例，该男性经基因诊断患有克兰费尔特综合征，有步态共济失调病史，导致反复跌倒。本文讨论了特发性正常压力脑积水与克兰费尔特综合征之间的直接关联以及临床病理生理和潜在的分子影响。
