Kadowaki Yuji, Nishiyama Mitsuru, Nakamura Makoto, Morisaka Hiroyuki, Fujimoto Shimpei, Terada Yoshio, Kojima Kensuke
Department of Endocrinology, Metabolism and Nephrology, Kochi Medical School, Kochi University, Nankoku City, Kochi, Japan.
Health Care Center, Kochi University, Kochi City, Kochi, Japan.
Endocrinol Diabetes Metab Case Rep. 2022 Jun 1;2022. doi: 10.1530/EDM-22-0232.
Langerhans cell histiocytosis (LCH) is a rare disease characterized by the proliferation of abnormal Langerhans cells in various tissues and organs, including bone, skin, the lungs, and the pituitary gland. Hypothalamic-pituitary lesions in LCH often cause central diabetes insipidus (CDI), but the natural course of LCH in the CNS remains to be elucidated. In this study, we report an interesting case of altered LCH lesions in the CNS from the pituitary to the hypothalamus in a 45-year-old woman. She developed symptoms of polyuria and was diagnosed with CDI with lymphocytic hypophysitis due to an enlarged pituitary gland with stalk thickening shown on MRI. Short-term glucocorticoid therapy cured pituitary enlargement, but serum prolactin levels gradually increased. Six years later, the immunohistological findings of a skin biopsy revealed positive for leukocyte common antigen, S-100, and CD1a expression, indicating a diagnosis of LCH. MRI revealed a new lesion in the hypothalamus without pituitary involvement, likely due to LCH. Chemotherapy improved LCH lesions both in the skin and hypothalamus, but therapy was stopped on the patient's request. Although adult-onset LCH is rare, it should be considered as a differential diagnosis in cases of CDI as the primary disease. The clinical course in the present case indicated that LCH lesion was altered from pituitary to suprasellar extension; where such changes were observed, the possibility of LCH should be considered.
Diagnosing the primary disease of CDI is challenging; therefore, careful observation is necessary in pathologically unknown cases. Enhanced MRI should be performed in cases with suspected hypothalamic lesions, such as elevated serum prolactin. Although adult-onset LCH is rare, it should be considered a differential diagnosis in cases of CDI as the primary disease. The direction of changing CNS lesion from pituitary to suprasellar extension might be a unique MRI finding in LCH.
朗格汉斯细胞组织细胞增多症（LCH）是一种罕见疾病，其特征是异常朗格汉斯细胞在包括骨骼、皮肤、肺和垂体在内的各种组织和器官中增殖。LCH中的下丘脑 - 垂体病变常导致中枢性尿崩症（CDI），但LCH在中枢神经系统中的自然病程仍有待阐明。在本研究中，我们报告了一例45岁女性中枢神经系统中LCH病变从垂体改变至下丘脑的有趣病例。她出现多尿症状，MRI显示垂体增大伴柄增粗，诊断为伴有淋巴细胞性垂体炎的CDI。短期糖皮质激素治疗使垂体肿大治愈，但血清催乳素水平逐渐升高。六年后，皮肤活检的免疫组织学结果显示白细胞共同抗原、S - 100和CD1a表达呈阳性，提示LCH诊断。MRI显示下丘脑出现新病变，无垂体受累，可能由LCH引起。化疗改善了皮肤和下丘脑中的LCH病变，但根据患者要求停止了治疗。尽管成人起病的LCH罕见，但在以CDI为主要疾病的病例中应将其视为鉴别诊断。本病例的临床病程表明LCH病变从垂体改变为鞍上扩展；在观察到此类变化的情况下，应考虑LCH的可能性。
诊断CDI的原发性疾病具有挑战性；因此，在病理情况不明的病例中需要仔细观察。对于疑似下丘脑病变的病例，如血清催乳素升高，应进行增强MRI检查。尽管成人起病的LCH罕见，但在以CDI为主要疾病的病例中应将其视为鉴别诊断。中枢神经系统病变从垂体向鞍上扩展的方向可能是LCH中一种独特的MRI表现。
