成人下丘脑错构瘤

Hypothalamic hamartoma in adults

目的总结成人下丘脑错构瘤之临床特点。方法回顾分析27例成人下丘脑错构瘤患者的临床资料。结果共19例(70.37%)患者有临床症状与体征,其中仅5例(26.32%)于成年后发病,均因癫癎发作而就诊,但发作不频繁且无痴笑样癫癎表现。首发症状主要表现为性早熟(3例,15.79%)、痴笑样癫癎(9例,47.37%)、失神发作(2例,10.52%)和癫癎大发作(5例,26.32%);2例伴有智力障碍;多数患者可于痴笑样癫癎后不同时期出现癫癎大发作。CT及MRI检查显示脚间池或第三脑室内占位性病变,结合病史,明确诊断为下丘脑错构瘤。6例经翼点入路或胼胝体-透明隔-穹窿间入路手术切除下丘脑错构瘤,治愈3例(Engel分级Ⅰ级);癫癎发作基本消失2例(Engel分级Ⅱ级);无效1例(Engel分级Ⅴ级)。γ刀治疗2例,1例无效(Engel分级Ⅴ级);1例癫癎发作频率减少66.67%(Engel分级Ⅳ级)。抗癫癎药物治疗9例,但对痴笑样癫癎无效。结论成人下丘脑错构瘤患者临床症状相对较轻,较少发生智力障碍,干预措施应慎重。

Objective To study the clinical features of hypothalamic hamartoma （HH） in adults. Methods A retrospective review of 27 cases of hypothalamic hamartoma in adults was performed, which account for 12.62% in all 214 hypothalamic hamartoma patients diagnosed in Beijing Tiantan Hospital from 1994 to 2008. Results The mean age of the patients diagnosed as hypothalamic hamartoma was 29.22 years old ranged from 18 to 66 years old, the rate of male to female was 2 ： 1. Eight patients （29.63%） were asymptomatic and 19 patients （70.37%） were symptomatic. The onset of symptom developed before adult life were found in 14 patients （73.68%）, the other 5 patients （26.32%） developed a milder epileptic seizures in adult life which ranged from 19 to 51 years old. Most patients presented grand mal epilepsy. Hypothalamic hamartoma was diagnosed by the combination of medical history with CT and MRI which presented space occupying lesion at interpeduncular cistern or in the third ventricle. The first symptom presented in 19 cases of symptomatic patients were as follow： precocious puberty in 3 cases （15.79%）, gelastic seizure in 9 patients （47.37%）, absence seizure in 2 patients （10.52%） and generalized tonic-clonic seizure in 5 patients （26.32%）. Two patients combined with mental retardation. Among the 9 patients with gelastic seizure, 2 patients had generalized tonic-clonic seizure at the time of onset of gelastic seizure, 6 patients presented with generalized tonic-clonic seizure at the mean time of 10.70 years （ranged from 6 months to 21 years） after the onset of gelastic seizure, one patient presented with gelastic seizure only. All the patients performed CT and MRI, and the time of follow-up was 14 months to 9 years and 10 months. Six patients underwent resection of hypothalamic hamartoma through pterional approach or callosal-septum pellueidum-interforniceal approach. Three cases were cured （Engel class Ⅰ ）. Seizures were almost free in 2 cases （Engel class Ⅱ）. Seizures were not changed in one case （Engel class Ⅴ）. Two patients underwent γ-knife surgery： one case showed no change at seizure onset and another one showed reduction of seizure frequency （Engel class IV）. Antiepileptic drugs were used in 9 patients, but no effect was seen on gelastic seizure. Conclusion Adults with hypothalamic hamartoma usually present with mild epilepsy and seldom occur intellectual disturbance. Treatment should be given with caution.