Asai Maho, Gomi Akira, Ibaraki Nobuhiro, Watanabe Hideaki, Kikkawa Ichiro, Nakamata Akihiro, Tajima Toshihiro
Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Department of Pediatric Neurosurgery, Jichi Children's Medical Center, Jichi Medical University, Tochigi, Japan.
Clin Pediatr Endocrinol. 2023;32(3):174-179. doi: 10.1297/cpe.2023-0009. Epub 2023 Apr 28.
Camurati-Engelmann disease (CED) causes bone pain, muscle weakness, and cranial nerve symptoms due to abnormal thickening of the long bones of the limbs and the cortex of the skull. The pathophysiology of CED is a gain-of-function variant of (). The ophthalmological symptoms of CED are usually caused by increased intracranial pressure and optic canal stenosis. Here, we report the case of a patient in whom prednisolone was effective against papilledema caused by CED. In this case, when papilledema was observed in both fundi, the patient showed increased bone pain, fever, and elevated CRP and ALP levels. Brain magnetic resonance imaging (MRI) revealed a high short tau inversion recovery (STIR) signal in both optic nerves, suggesting edematous changes. Prednisolone ameliorated bone pain, fever, and papilledema, resulting in a slight improvement of the visual function of the right eye. Our results suggest that prednisolone may be effective in treating ophthalmologic symptoms in addition to bone pain in patients with CED.
卡姆拉蒂-恩格尔曼病（CED）会导致骨痛、肌肉无力以及由于四肢长骨和颅骨皮质异常增厚而出现的颅神经症状。CED的病理生理学是（）的功能获得性变异。CED的眼科症状通常由颅内压升高和视神经管狭窄引起。在此，我们报告一例患者，泼尼松龙对CED引起的视乳头水肿有效。在该病例中，当双眼眼底均观察到视乳头水肿时，患者骨痛加剧、发热，且C反应蛋白（CRP）和碱性磷酸酶（ALP）水平升高。脑部磁共振成像（MRI）显示双侧视神经短tau反转恢复（STIR）信号增强，提示存在水肿改变。泼尼松龙改善了骨痛、发热和视乳头水肿，右眼视功能稍有改善。我们的结果表明，泼尼松龙除了对CED患者的骨痛有效外，可能对治疗眼科症状也有效。
