Nagaki Shigeru, Otsuka Eiko, Miwa Kumiko, Funatsuka Makoto, Kubo Osami, Hori Tomokatsu, Shibata Noriyuki, Sawada Tatsuo, Osawa Makiko
Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
Clin Pediatr Endocrinol. 2010 Apr;19(2):31-7. doi: 10.1297/cpe.19.31. Epub 2010 May 22.
Hypothalamic hamartoma (HH) is a congenital malformation diagnosed based on magnetic resonance imaging (MRI) and histological findings; it is often associated with central precocious puberty (CPP), gelastic seizures, abnormal behavior and mental retardation. In the present paper, we report our retrospective hypothesis that there is a relationship between symptoms and therapy, as well as the treatment for HH, and describe two cases of HH associated with CPP. Both cases had sessile masses located in the interpeduncular cistern, with extension to the hypothalamus on MRI (1.2 × 1.5 cm and 2.0 × 2.5 cm, respectively). The first case had intractable seizures, while the second had no seizures with paroxysmal discharge. In both patients, the hamartomas were partially removed, by γ-knife and surgical operation in the first case and surgically in the second, and a gonadotropin releasing hormone (GnRH) analogue was prescribed. One case showed improvement of both intelligence quotient (IQ) score and seizures, and the other showed improvements in IQ and abnormal behavior. It was difficult to determine any topology/symptom relationships. Surgery and GnRH analogue treatment can alleviate seizures, abnormal behavior and mental retardation associated with HH.
下丘脑错构瘤（HH）是一种基于磁共振成像（MRI）和组织学检查结果诊断的先天性畸形；它常与中枢性性早熟（CPP）、痴笑性癫痫、异常行为和智力发育迟缓相关。在本文中，我们报告了我们关于症状与治疗以及HH治疗之间关系的回顾性假设，并描述了两例与CPP相关的HH病例。两例均有位于脚间池的无蒂肿块，MRI显示延伸至下丘脑（分别为1.2×1.5厘米和2.0×2.5厘米）。第一例有难治性癫痫，而第二例无癫痫发作但有阵发性放电。在这两名患者中，错构瘤均被部分切除，第一例采用伽玛刀和手术切除，第二例仅通过手术切除，并给予促性腺激素释放激素（GnRH）类似物治疗。一例患者的智商（IQ）评分和癫痫发作均有改善，另一例患者的智商和异常行为有所改善。很难确定任何拓扑结构/症状关系。手术和GnRH类似物治疗可以缓解与HH相关的癫痫、异常行为和智力发育迟缓。
