Immunoglobulin Therapy in Idiopathic Hypothalamic Dysfunction
Immunoglobulin Therapy in Idiopathic Hypothalamic Dysfunction
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DOI：
10.1016/j.pediatrneurol.2009.03.017
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发表时间：
2009-09-01
影响因子：
3.8
通讯作者：
Gaertner, Jutta
中科院分区：
文献类型：
--
作者：
Huppke, Peter;Heise, Alexander;Gaertner, Jutta
特发性下丘脑功能障碍是一种罕见的疾病，多见于 3-7 岁儿童。严重的下丘脑和脑干功能障碍导致 25% 的患者死亡。该疾病被认为是自身免疫性疾病，或者在某些情况下是副肿瘤性疾病。尚无成功治疗的报道。患者V.在7岁时出现食欲亢进、嗜睡和极度攻击性，伴有体温过高、体温过低、窦性心动过缓、高钠血症、低钠血症、持续性高催乳素血症、甲状腺功能减退和生长激素缺乏的发作。 9 岁时，诊断出特发性下丘脑功能障碍，并开始免疫球蛋白治疗。给予九个疗程的免疫球蛋白，剂量为每 4 周 2 g/kg。行为有可重复的改善，并且没有明显的低钠血症或高钠血症和窦性心动过缓的进一步发作。内分泌异常和体温调节不良仍然存在。在特发性下丘脑功能障碍的晚期阶段施用免疫球蛋白可以改善一些但不是所有症状。假设这种疾病存在自身免疫基础，那么在疾病早期阶段进行治疗应该会更有效。为了促进早期治疗，有必要提高对这种疾病的认识，以便进行早期诊断。 (C) 2009 年，Elsevier Inc. 保留所有权利。
Idiopathic hypothalamic dysfunction is a rare disorder presenting at age 3-7 years. Severe hypothalamic and brainstem dysfunction leads to death in 25% of patients. The disease is presumed to be autoimmune, or in some cases paraneoplastic. No successful treatment has been reported. Patient V. developed hyperphagia, hypersomnia, and extreme aggression at age 7 years, accompanied by episodes of hyperthermia, hypothermia, sinus bradycardia, hypernatremia, hyponatremia, persistent hyperprolactinemia, hypothyroidism, and growth-hormone deficiency. At age 9 years, a diagnosis of idiopathic hypothalamic dysfunction was rendered, and immunoglobulin therapy was commenced. Nine courses of immunoglobulins, at a dose of 2 g/kg every 4 weeks, were administered. Reproducible improvements in behavior and no further episodes of hyponatremia or hypernatremia and sinus bradycardia were evident. The endocrinologic abnormalities and poor thermoregulation remained. Administration of immunoglobulins during late stages of idiopathic hypothalamic dysfunction led to improvement in some but not all signs. Assuming an autoimmune basis for this disorder, treatment during early stages of disease should be more effective. To facilitate such early treatment, increased awareness of this disorder is necessary, to allow for early diagnosis. (C) 2009 by Elsevier Inc. All rights reserved.