痴笑、性早熟与先天性下丘脑错构瘤

Gelastic Precocious and Hypothalamic Hamartoma

为探讨人下丘脑错构瘤的超微病理特点及其与临床症状、体征的关系 ,将 1 4例下丘脑错构瘤患者的手术切除新鲜活检组织 ,在光学显微镜及电子显微镜下检查。结果 :光镜下可见散在大小不等的神经细胞 ,部分病例胶质细胞增生。电镜检查可见神经细胞形态不一 ,胞核相对较大 ,胞质内细胞器丰富 ,可见少量致密核心颗粒 ;间质内见神经毡结构 ,细胞突起终末有突触形成并有大量兴奋性神经递质小泡。超微结构证实下丘脑错构瘤由神经上皮成分构成 ,可见发育不成熟的神经元并有胶质细胞增生。细胞突起内见神经递质小泡及致密核心的神经分泌颗粒 ,这些形态特点与患儿的性早熟及痴笑样癫痫有关。

To determine the relationship between the ultrapathology characteristic and clinical symptoms, signs of hypothalamic hamartoma, 14 cases of hypothalamic hamartoma were studied. Of them, there are 5 cases with precocious puberty; 4 cases with gelastic epilepsy; other cases with both precocious puberty and gelastic epilepsy. CT or MRI scan showed occupation mass in hypothalamic area. Total surgical resection were done in 14 cases. Biopsy specimen were examined with eptic and electron microscope. Ultrastructural research preved that the hypothalamic hamartoma is composed of neuroectoderm. The tumor parenchymal consisted of neurons and astrocytes. The tumor mesenchyme looked like neuropil. Electron microscopic examination showed that there were Golgi apparatus, microtubules, dense core vesicles and clear vesicles were found in numerous cytoplasm and cell processes. These morphologic features relate to precocious puberty and gelastic epilepsy. It is an important method to diagnosis hypothalamic neuronal hamartoma with eletron microscope technique.