Department of Pediatric Neurosurgery, Children's Medical Center Hospital, Tehran University of Medical Sciences, 1419733151, Tehran, Iran.
Childs Nerv Syst. 2022 Apr;38(4):695-703. doi: 10.1007/s00381-021-05394-3. Epub 2022 Feb 25.
Gorham-Stout disease (GSD) is a rare progressive osteolytic disorder, theoretically caused by lymphovascular endothelial proliferation. Spinal involvement carries a dismal prognosis because of neurological consequences. Lesions of the skull base are extremely rare and entail even more devastating prognosis due to cervical instability and cerebrospinal fluid (CSF) leakage. Due to scarcity of this condition, the aim of this study was to give an overview of skull base GSD and review the cases with such condition reported in the literature.
In this case-based review, different aspects of skull base GSD are discussed, and a sample clinical case of GSD leading to cranial settling and rhinorrhea is presented. The characteristics, symptoms, and managements of all English-language PubMed-reported cases were reviewed, and different features of presentation and methods of treatments were analyzed.
Based on the literature review, most of the cases encountered serious problems in the course of the disease. Meningitis/CSF leakage was detected in 12 of 26 collected cases, followed by hearing loss/tinnitus/otitis media in 10 cases, headache in 8, and neck pain/stiffness in 8 patients. Despite a variety of treatments, improvement was only observed in 8 of 26 collected cases. The reminders showed either stable condition or worsening and death.
All cases of GSD of the skull base should be evaluated for rhinorrhea/otorrhea and cranial settling, both of them being among the most life-threatening conditions. Since definite treatment, in order to stop disease progression, is sometimes impossible, symptomatic and supportive treatment should be started as possible.
Gorham-Stout 病（GSD）是一种罕见的进行性溶骨性疾病，理论上是由淋巴管内皮细胞增生引起的。由于神经后果，脊柱受累的预后较差。颅底病变极为罕见，由于颈椎不稳定和脑脊液（CSF）漏，预后更具破坏性。由于这种情况很少见，本研究的目的是概述颅底 GSD，并回顾文献中报告的此类病例。
在基于病例的回顾性研究中，讨论了颅底 GSD 的不同方面，并提出了一例导致颅底沉降和鼻漏的 GSD 临床病例。回顾了所有英语文献报道的病例的特征、症状和管理，并分析了不同的表现特征和治疗方法。
根据文献复习，大多数病例在疾病过程中都遇到了严重的问题。在 26 例收集病例中，有 12 例发现脑膜炎/CSF 漏，其次是听力损失/耳鸣/中耳炎 10 例，头痛 8 例，颈痛/僵硬 8 例。尽管进行了各种治疗，在 26 例收集病例中仅观察到 8 例改善。其余的病例表现为病情稳定或恶化和死亡。
所有颅底 GSD 病例均应评估是否存在鼻漏/耳漏和颅底沉降，这两种情况都是最具生命威胁的情况之一。由于明确的治疗以阻止疾病进展有时是不可能的，因此应尽快开始对症和支持性治疗。
