Department of Endocrinology and Metabolism, Nagasaki University Hospital, Nagasaki, Japan.
Department of Hypothalamic and Pituitary Surgery, Toranomon Hospital, Tokyo, Japan.
Endocr J. 2021 Jan 28;68(1):119-127. doi: 10.1507/endocrj.EJ20-0300. Epub 2020 Sep 19.
Idiopathic hypothalamitis is a rare condition that can cause anterior pituitary dysfunction and central diabetes insipidus (CDI), occasionally accompanied by a disturbance of autonomic regulation known as hypothalamic syndrome. This condition has been described as a subtype of autoimmune (lymphocytic) hypophysitis; however, some cases of isolated hypothalamic involvement with no inflammatory lesions in either the pituitary gland or infundibulum have been reported. The detailed epidemiology and pathophysiology of isolated hypothalamitis have not been clarified. We herein report a case of a solitary hypothalamic lesion in a young woman who showed spontaneous development of CDI and panhypopituitarism accompanied by hyperphagia. The hypothalamic lesion increased from 11 × 7 to 17 × 7 mm over 16 months based on the sagittal slices of magnetic resonance imaging examinations. The negative results for anti-pituitary antibodies and anti-Rabphilin-3A antibodies suggested that upward extension of lymphocytic adenohypophysitis or infundibulo-neurohypophysitis was unlikely. Infectious disease, granulomatosis, Langerhans cell histiocytosis, vasculitis, and systemic neoplastic diseases were excluded by the findings of a laboratory investigation, cerebrospinal fluid examination, and imaging studies. To make a definitive diagnosis, we performed a ventriculoscopic biopsy of the hypothalamic lesion. Histology revealed an infiltration of nonspecific lymphoplasmacytes with no evidence of neoplasm, which was consistent with a diagnosis of idiopathic hypothalamitis. Subsequently, the patient was treated with methylprednisolone pulse therapy followed by oral prednisolone. The hypothalamic lesion improved and remained undetectable after withdrawal of the prednisolone, suggesting that the glucocorticoid treatment was effective for isolated hypothalamitis while the patient remains dependent on the replacement of multiple hormones.
特发性下丘脑炎是一种罕见的疾病，可导致垂体前叶功能障碍和中枢性尿崩症（CDI），偶尔伴有自主调节紊乱，称为下丘脑综合征。这种情况已被描述为自身免疫（淋巴细胞）性垂体炎的一个亚型；然而，也有报道称孤立性下丘脑受累，垂体或漏斗均无炎症病变。孤立性下丘脑炎的详细流行病学和病理生理学尚未阐明。我们在此报告一例年轻女性的孤立性下丘脑病变，其表现为自发性 CDI 和全垂体功能减退症伴食欲亢进。基于磁共振成像检查的矢状位切片，下丘脑病变在 16 个月内从 11×7 增大到 17×7mm。抗垂体抗体和抗 Rabphilin-3A 抗体检测结果阴性提示淋巴细胞性腺垂体炎或漏斗神经垂体炎向上延伸的可能性不大。通过实验室检查、脑脊液检查和影像学研究排除了感染性疾病、肉芽肿病、朗格汉斯细胞组织细胞增生症、血管炎和全身肿瘤性疾病。为了明确诊断，我们对下丘脑病变进行了脑室镜活检。组织学显示无特异性淋巴浆细胞浸润，无肿瘤证据，符合特发性下丘脑炎的诊断。随后，患者接受了甲基强的松龙脉冲治疗，随后口服泼尼松龙。下丘脑病变改善，泼尼松龙停药后仍无法检测到，表明糖皮质激素治疗对孤立性下丘脑炎有效，而患者仍依赖于多种激素的替代治疗。
