Endocrinology and Nutrition Department, La Paz University Hospital, Madrid, Spain.
Pathology Department, La Paz University Hospital, Madrid, Spain.
Virchows Arch. 2018 Nov;473(5):645-648. doi: 10.1007/s00428-018-2396-z. Epub 2018 Jul 8.
Craniofacial fibrous dysplasia, characteristic of McCune-Albright syndrome (MAS), is usually present in patients with MAS-related acromegaly. We report here the first case of a patient with an undiagnosed MAS presenting with an acute hydrocephalus. A 21-year-old male with gigantism and craniofacial fibrous dysplasia consulted for rapidly progressive headache. An acute obstructive hydrocephalus due to a 39 × 35-mm cystic lesion in the third ventricle was discovered and operated, obtaining hydrocephalus resolution. Pathology described a colloid cyst material and a growth hormone-secreting pituitary adenoma. Genetic study revealed the mosaic GNAS R201H mutation in the pituitary tissue, confirming a MAS diagnosis. Adequate hormonal control was achieved postoperatively. Our results suggest that long-term untreated growth hormone excess in patients with MAS-related craniofacial fibrous dysplasia might end compromising cerebrospinal fluid flow. A prompt diagnosis and coordinated multidisciplinary treatment may help to avoid long-term deleterious impact of hyperfunctioning endocrinopathies in these patients.
颅面纤维结构不良，为 McCune-Albright 综合征（MAS）的特征，通常存在于 MAS 相关肢端肥大症患者中。我们在此报告首例 MAS 未确诊病例，表现为急性脑积水。一名 21 岁男性因巨人症和颅面纤维结构不良就诊，表现为进行性头痛。发现并手术治疗了第三脑室 39×35mm 囊性病变引起的急性梗阻性脑积水，脑积水得到缓解。病理描述为胶样囊肿物质和生长激素分泌性垂体腺瘤。基因研究显示垂体组织存在 GNAS R201H 镶嵌突变，确诊为 MAS。术后实现了适当的激素控制。我们的结果表明，MAS 相关颅面纤维结构不良患者的生长激素过度分泌如果长期未得到治疗，可能会最终影响脑脊液的流动。及时诊断和多学科协作治疗可能有助于避免这些患者内分泌功能亢进的长期不良影响。
