小儿下丘脑错构瘤的诊断和治疗

Diagnosis and treatment of hypothalamic hamartoma in children

目的探讨小儿下丘脑错构瘤的诊断和显微外科手术治疗。方法回顾分析1998年1月至2006年12月收治的5例下丘脑错构瘤，男2例，女3例，平均年龄44．4个月。2例主要表现性早熟，1例主要表现为痴笑样癫痫，2例表现为性早熟和痴笑样癫痫，MRI表现为脚间池和鞍上池等信号肿物，无强化，最大直径大小为13．9～21．0mm。5例患儿均采用右翼点入路显微手术切除错构瘤。结果5例下丘脑错构瘤均获全切除，病理证实为下丘脑错构瘤，术后患儿性早熟均停止，复查性激素均下降至儿童期水平；2例癫痫症状消失，1例癫痫症状明显减轻，无其他术后并发症。结论小儿下丘脑错构瘤的症状明显，影像特殊，诊断明确；首选为显微手术切除错构瘤，全切后可治愈。

Objective To investigate the diagnosis and microsurgical treatment of hypothalamic hamartoma in children. Methods A retrospective analysis was conducted on five cases with hypothalamic hamartoma in children from January 1998 to December 2006. Five children （two boys and three girls） were treated for precocious puberty and gelastic seizures secondary to hypothalamic hamartoma. The age ranged from 20 months to 9 years with a mean of 44. 4 months. Two cases mainly displayed precocious puberty, 1 with gelastic seizures and the other 2 cases with both of precocious puberty and gelastic seizures. The sex hormone level of four cases was about 5 to several dozen times more than normal before operation. Magnetic resonance imaging clearly demonstrated an isointense mass in the interpeduncular cistern （5 cases） and suprasellar cistern （2 cases） ranged from 13. 9 to 21.0 mm in diameter without enhanced pictures after injected Gd-DTPA. The hamartomas were totally removed via a right frontotemporal approach under microscope. Results All hypothalamic harnartomas were completely resected under microscope and confirmed by pathological examination. The symptoms and signs of precocious puberty completely regressed postoperatively, and sex hormone level descended to prepubertal level in all patients. The symptoms of gelastic seizures completely disappeared in two patients and obviously reduced from ten times per day before operation to one time per fortnight in another one patient. There was no any complication during 1 year follow-up in all patients. Conclusions Microsurgery can be deserved the first choice of treatment for hypothalamic hamartoma in children.