Huppke Peter, Heise Alexander, Rostasy Kevin, Huppke Brenda, Gärtner Jutta
Department of Pediatrics and Pediatric Neurology, Georg August University, Robert-Koch-Strasse 40, Göttingen D-37075, Germany.
Pediatr Neurol. 2009 Sep;41(3):232-4. doi: 10.1016/j.pediatrneurol.2009.03.017.
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.
特发性下丘脑功能障碍是一种罕见疾病，发病年龄在3至7岁。严重的下丘脑和脑干功能障碍导致25%的患者死亡。该疾病被推测为自身免疫性疾病，在某些情况下为副肿瘤性疾病。目前尚无成功治疗的报道。患者V.在7岁时出现贪食、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。9岁时，确诊为特发性下丘脑功能障碍，并开始免疫球蛋白治疗。共给予9个疗程的免疫球蛋白，每4周剂量为2 g/kg。行为有可重复性改善，且未再出现低钠血症、高钠血症和窦性心动过缓发作。内分泌异常和体温调节不良仍存在。在特发性下丘脑功能障碍晚期给予免疫球蛋白治疗，部分但并非所有症状都有改善。假设该疾病基于自身免疫，在疾病早期进行治疗应该会更有效。为了便于早期治疗，有必要提高对该疾病的认识，以便早期诊断。
