Department of Radiology, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, Pennsylvania.
Division of Child Neurology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.
Pediatr Neurol. 2020 Jul;108:99-105. doi: 10.1016/j.pediatrneurol.2019.11.014. Epub 2019 Dec 2.
Spontaneous third ventriculostomies have been reported in relation to obstructive hydrocephalus and increased intracranial pressure and are most commonly seen as disruption of the floor of the third ventricle. Hydrocephalus has been reported in patients with Krabbe disease; however, it is clinically difficult to monitor for hydrocephalus in patients with Krabbe disease as symptoms of increased intracranial pressure may overlap with symptoms of Krabbe disease. We describe a case series of spontaneous third ventriculostomy and hydrocephalus, likely in response to increased intracranial pressure, in patients with infantile Krabbe disease.
Brain magnetic resonance images of patients with infantile Krabbe disease were retrospectively analyzed to assess for ventricular size and presence of spontaneous third ventriculostomies. A brain atlas was used to standardize the calculation of ventricular size. Mid-sagittal, T2-weighted images around the third ventricle were assessed for spontaneous third ventriculostomies. Developmental outcomes were measured with a series of standardized and validated tests.
Seventy-five patients with infantile Krabbe disease were evaluated. Twelve cases of spontaneous third ventriculostomies were identified. Head circumference (SE = 8.07; P < 0.001) and average ventricular volume were greater (left: SE = 1.47, P < 0.001) in patients with spontaneous third ventriculostomies when compared with patients without spontaneous third ventriculostomies. Patients with spontaneous third ventriculostomies also had more delayed development in adaptive (difference = 0.2, P < 0.01), gross motor (difference = 0.0, P < 0.01), and fine motor (difference = 0.1, P < 0.001) function.
Spontaneous third ventriculostomies, likely in the context of increased intracranial pressure, were identified in patients with Krabbe disease. Although difficult to assess, our study highlights the importance of monitoring for increased intracranial pressure, which can result in spontaneous third ventriculostomies, in patients with infantile Krabbe disease.
已报道与阻塞性脑积水和颅内压升高相关的自发性第三脑室造瘘术，最常见的是第三脑室底部破裂。Krabbe 病患者已报道有脑积水；然而，由于颅内压升高的症状可能与 Krabbe 病的症状重叠，因此临床上难以监测 Krabbe 病患者的脑积水。我们描述了一系列可能因颅内压升高而导致的婴儿型 Krabbe 病患者的自发性第三脑室造瘘术和脑积水病例。
回顾性分析婴儿型 Krabbe 病患者的脑磁共振图像，以评估脑室大小和自发性第三脑室造瘘术的存在。使用脑图谱标准化计算脑室大小。评估第三脑室周围的中矢状面、T2 加权图像是否存在自发性第三脑室造瘘术。采用一系列标准化和验证过的测试来衡量发育结果。
共评估了 75 例婴儿型 Krabbe 病患者。确定了 12 例自发性第三脑室造瘘术病例。与没有自发性第三脑室造瘘术的患者相比，有自发性第三脑室造瘘术的患者的头围（SE=8.07；P<0.001）和平均脑室体积更大（左侧：SE=1.47，P<0.001）。有自发性第三脑室造瘘术的患者在适应性（差异=0.2，P<0.01）、粗大运动（差异=0.0，P<0.01）和精细运动（差异=0.1，P<0.001）方面的发育也更迟。
在颅内压升高的背景下，Krabbe 病患者中发现了自发性第三脑室造瘘术。尽管难以评估，但我们的研究强调了监测婴儿型 Krabbe 病患者颅内压升高的重要性，这可能导致自发性第三脑室造瘘术的发生。
