下丘脑错构瘤40例临床分析

目的 总结下丘脑错构瘤的诊断和治疗。方法 40例下丘脑错构瘤，男：女＝1.35:1；发病年龄为2个月至51岁，中位数为12.5个月。15岁以下儿童32例（80％），成人（18岁以上）4例（10％）。其临床主要特点为痴笑样癫痫和性早熟，少数还有其它类型癫痫、智力低下或合并先天畸形；其中单纯性早熟者19例（48％），性早熟合并癫痫者14例（35％），单纯癫痫者7例（18％）。CT、MRI显示脚间池或垂体柄后上方有等信号（等密度）病变，注药无强化，手术治疗27例，除1例采用经纵板入路外，均采用经翼点入路切除错构瘤；γ刀治疗8例；药物治疗1例。结果 全切14例（52％），其中10例为单纯性早熟者，均治愈；大部切除13例，症状明显好转，手术有效率为975；单纯γ刀治疗的5例中有效1例，余4例观察时间尚短，而难以判断；药物治疗性早熟有效，但对痴笑样癫痫及其它类型癫痫无效。结论 下丘脑错构瘤首选治疗为手术切除。

The clinical analysis of 40 cases of hypothalamic hamartomas

Objective To study the clinical feature and treatment of 40 cases of hypothalamic hamartomas.Methods 40 cases of hypothalamic hamartomas were reported, which included 23 males and 17 females. The onset age ranges from 2 month old to 51 years old. There are 32 cases(80%) children (younger than 15 years old)and 4 cases (10%) adults. The main clinical features of hypothalamic hamartoma are precocious puberty and gelastic seizures, some combine with other kind of seizures, mental retardation, or congenital abnormality. There are 19 cases (48%) present with simple precocious puberty, 14 cases (35%) with precocious puberty and epilepsy and 7 cases (18%) with simple epilepsy. MR scan revealed an isointense mass below the tuber cinereum extending into supersellar and interpeduncular cistern without enhancement. 27 cases were operated via a pterional approach except one case via a translaminaterminalis.8 cases were treated by gamma knife, one case were treated with GnRH analog.Results 14 cases hypothalamic hamartomas were totally removed (52%),10 of them who were presented with simple precocious puberty were cured. The other 13 cases that were removed gross-partially also improved symptom. The effective rate of operation was 97%; patients with simple precocious puberty can be cured if the hamartoma were total removed.Conclusions Microsurgery is the first choice of treatment for hypothalamic hamartomas.