Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA.
J Investig Med High Impact Case Rep. 2021 Jan-Dec;9:23247096211012191. doi: 10.1177/23247096211012191.
Neurosarcoidosis is a rare phenomenon in the pediatric population, with only a few cases reported in the literature worldwide. While hypothalamo-pituitary involvement is known to occur, direct infiltration of the pituitary gland and isolated anterior pituitary dysfunction without diabetes insipidus is seldom observed. A high index of suspicion is required for diagnosis of neurosarcoidosis, and treatment can be challenging due to lack of standardized guidelines. We present the case of a 17-year-old female with known sarcoidosis of the lacrimal glands, who developed severe headache and neurologic symptoms secondary to granulomatous infiltration of the pituitary gland and infundibulum due to neurosarcoidosis. She was successfully treated with corticosteroids, methotrexate, and adalimumab, with complete radiologic resolution. This is the first documented pediatric case of neurosarcoidosis with radiologic granulomatous infiltration of the pituitary gland, manifesting as partial anterior hypopituitarism, in the form of central hypothyroidism, without diabetes insipidus.
神经结节病在儿科人群中较为罕见，全球文献中仅报道了少数病例。已知下丘脑-垂体受累，但垂体直接浸润和孤立性垂体前叶功能障碍而无尿崩症则很少见。诊断神经结节病需要高度怀疑，由于缺乏标准化指南，治疗可能具有挑战性。我们报告了一例 17 岁女性，患有已知的泪腺结节病，因神经结节病导致垂体和漏斗的肉芽肿浸润，出现严重头痛和神经症状。她成功地接受了皮质类固醇、甲氨蝶呤和阿达木单抗治疗，影像学完全缓解。这是首例有文献记录的儿科神经结节病病例，表现为中枢性甲状腺功能减退，无尿崩症，影像学示垂体肉芽肿浸润，呈部分垂体前叶功能减退。
