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。     

下丘脑错构瘤214例临床特征分析

目的 分析下丘脑错构瘤的临床特征.方法 回顾分析1994年1月至2008年5月北京天坛医院诊治的214例下丘脑错构瘤的临床资料.结果 性别:男性多于女性,男女之比为1.52:1;有性早熟的115例中,男女之比为1.09:1;有癫痫的123例中男女之比为2.15:1;有痴笑样癫痫的96例中男女之比为2:1;同时表现为性早熟及癫痫的38例中男女之比为1.38:1.发病年龄:200例有症状的病例,平均发病年龄为34.5个月;发病年龄≤3岁者157例,占78.5%;单纯性早熟者77例(38.5%),平均发病年龄16.5个月,<3岁者67例,占87%;表现有性早熟者115例(57.5%),平均发病年龄为17.63个月,发病<3岁者99例,占86.1%;有痴笑样癫痫者96例(48%),平均为26.14个月,<3岁者有78例,占81.3%;所有癫痫者[痴笑样癫痫和(或)癫痫大、小发作]123例(61.5%),平均发病年龄为3.81岁,≤3岁前发病者有90例,占73.2%.结论 下丘脑错构瘤多数在婴幼儿期发病,男性多于女性.     

下丘脑错构瘤214例临床特征分析

目的 分析下丘脑错构瘤的临床特征.方法 回顾分析1994年1月至2008年5月北京天坛医院诊治的214例下丘脑错构瘤的临床资料.结果 性别:男性多于女性,男女之比为1.52:1;有性早熟的115例中,男女之比为1.09:1;有癫痫的123例中男女之比为2.15:1;有痴笑样癫痫的96例中男女之比为2:1;同时表现为性早熟及癫痫的38例中男女之比为1.38:1.发病年龄:200例有症状的病例,平均发病年龄为34.5个月;发病年龄≤3岁者157例,占78.5%;单纯性早熟者77例(38.5%),平均发病年龄16.5个月,<3岁者67例,占87%;表现有性早熟者115例(57.5%),平均发病年龄为17.63个月,发病<3岁者99例,占86.1%;有痴笑样癫痫者96例(48%),平均为26.14个月,<3岁者有78例,占81.3%;所有癫痫者[痴笑样癫痫和(或)癫痫大、小发作]123例(61.5%),平均发病年龄为3.81岁,≤3岁前发病者有90例,占73.2%.结论 下丘脑错构瘤多数在婴幼儿期发病,男性多于女性.     

下丘脑错构瘤214例临床特征分析

目的 分析下丘脑错构瘤的临床特征.方法 回顾分析1994年1月至2008年5月北京天坛医院诊治的214例下丘脑错构瘤的临床资料.结果 性别:男性多于女性,男女之比为1.52:1;有性早熟的115例中,男女之比为1.09:1;有癫痫的123例中男女之比为2.15:1;有痴笑样癫痫的96例中男女之比为2:1;同时表现为性早熟及癫痫的38例中男女之比为1.38:1.发病年龄:200例有症状的病例,平均发病年龄为34.5个月;发病年龄≤3岁者157例,占78.5%;单纯性早熟者77例(38.5%),平均发病年龄16.5个月,<3岁者67例,占87%;表现有性早熟者115例(57.5%),平均发病年龄为17.63个月,发病<3岁者99例,占86.1%;有痴笑样癫痫者96例(48%),平均为26.14个月,<3岁者有78例,占81.3%;所有癫痫者[痴笑样癫痫和(或)癫痫大、小发作]123例(61.5%),平均发病年龄为3.81岁,≤3岁前发病者有90例,占73.2%.结论 下丘脑错构瘤多数在婴幼儿期发病,男性多于女性.     

下丘脑错构瘤214例临床特征分析

目的 分析下丘脑错构瘤的临床特征.方法 回顾分析1994年1月至2008年5月北京天坛医院诊治的214例下丘脑错构瘤的临床资料.结果 性别:男性多于女性,男女之比为1.52:1;有性早熟的115例中,男女之比为1.09:1;有癫痫的123例中男女之比为2.15:1;有痴笑样癫痫的96例中男女之比为2:1;同时表现为性早熟及癫痫的38例中男女之比为1.38:1.发病年龄:200例有症状的病例,平均发病年龄为34.5个月;发病年龄≤3岁者157例,占78.5%;单纯性早熟者77例(38.5%),平均发病年龄16.5个月,<3岁者67例,占87%;表现有性早熟者115例(57.5%),平均发病年龄为17.63个月,发病<3岁者99例,占86.1%;有痴笑样癫痫者96例(48%),平均为26.14个月,<3岁者有78例,占81.3%;所有癫痫者[痴笑样癫痫和(或)癫痫大、小发作]123例(61.5%),平均发病年龄为3.81岁,≤3岁前发病者有90例,占73.2%.结论 下丘脑错构瘤多数在婴幼儿期发病,男性多于女性.     

下丘脑错构瘤214例临床特征分析

目的 分析下丘脑错构瘤的临床特征.方法 回顾分析1994年1月至2008年5月北京天坛医院诊治的214例下丘脑错构瘤的临床资料.结果 性别:男性多于女性,男女之比为1.52:1;有性早熟的115例中,男女之比为1.09:1;有癫痫的123例中男女之比为2.15:1;有痴笑样癫痫的96例中男女之比为2:1;同时表现为性早熟及癫痫的38例中男女之比为1.38:1.发病年龄:200例有症状的病例,平均发病年龄为34.5个月;发病年龄≤3岁者157例,占78.5%;单纯性早熟者77例(38.5%),平均发病年龄16.5个月,<3岁者67例,占87%;表现有性早熟者115例(57.5%),平均发病年龄为17.63个月,发病<3岁者99例,占86.1%;有痴笑样癫痫者96例(48%),平均为26.14个月,<3岁者有78例,占81.3%;所有癫痫者[痴笑样癫痫和(或)癫痫大、小发作]123例(61.5%),平均发病年龄为3.81岁,≤3岁前发病者有90例,占73.2%.结论 下丘脑错构瘤多数在婴幼儿期发病,男性多于女性.     

下丘脑错构瘤214例临床特征分析

目的 分析下丘脑错构瘤的临床特征.方法 回顾分析1994年1月至2008年5月北京天坛医院诊治的214例下丘脑错构瘤的临床资料.结果 性别:男性多于女性,男女之比为1.52:1;有性早熟的115例中,男女之比为1.09:1;有癫痫的123例中男女之比为2.15:1;有痴笑样癫痫的96例中男女之比为2:1;同时表现为性早熟及癫痫的38例中男女之比为1.38:1.发病年龄:200例有症状的病例,平均发病年龄为34.5个月;发病年龄≤3岁者157例,占78.5%;单纯性早熟者77例(38.5%),平均发病年龄16.5个月,<3岁者67例,占87%;表现有性早熟者115例(57.5%),平均发病年龄为17.63个月,发病<3岁者99例,占86.1%;有痴笑样癫痫者96例(48%),平均为26.14个月,<3岁者有78例,占81.3%;所有癫痫者[痴笑样癫痫和(或)癫痫大、小发作]123例(61.5%),平均发病年龄为3.81岁,≤3岁前发病者有90例,占73.2%.结论 下丘脑错构瘤多数在婴幼儿期发病,男性多于女性.     

下丘脑错构瘤214例临床特征分析

目的 分析下丘脑错构瘤的临床特征.方法 回顾分析1994年1月至2008年5月北京天坛医院诊治的214例下丘脑错构瘤的临床资料.结果 性别:男性多于女性,男女之比为1.52:1;有性早熟的115例中,男女之比为1.09:1;有癫痫的123例中男女之比为2.15:1;有痴笑样癫痫的96例中男女之比为2:1;同时表现为性早熟及癫痫的38例中男女之比为1.38:1.发病年龄:200例有症状的病例,平均发病年龄为34.5个月;发病年龄≤3岁者157例,占78.5%;单纯性早熟者77例(38.5%),平均发病年龄16.5个月,<3岁者67例,占87%;表现有性早熟者115例(57.5%),平均发病年龄为17.63个月,发病<3岁者99例,占86.1%;有痴笑样癫痫者96例(48%),平均为26.14个月,<3岁者有78例,占81.3%;所有癫痫者[痴笑样癫痫和(或)癫痫大、小发作]123例(61.5%),平均发病年龄为3.81岁,≤3岁前发病者有90例,占73.2%.结论 下丘脑错构瘤多数在婴幼儿期发病,男性多于女性.     

下丘脑错构瘤214例临床特征分析

目的 分析下丘脑错构瘤的临床特征.方法 回顾分析1994年1月至2008年5月北京天坛医院诊治的214例下丘脑错构瘤的临床资料.结果 性别:男性多于女性,男女之比为1.52:1;有性早熟的115例中,男女之比为1.09:1;有癫痫的123例中男女之比为2.15:1;有痴笑样癫痫的96例中男女之比为2:1;同时表现为性早熟及癫痫的38例中男女之比为1.38:1.发病年龄:200例有症状的病例,平均发病年龄为34.5个月;发病年龄≤3岁者157例,占78.5%;单纯性早熟者77例(38.5%),平均发病年龄16.5个月,<3岁者67例,占87%;表现有性早熟者115例(57.5%),平均发病年龄为17.63个月,发病<3岁者99例,占86.1%;有痴笑样癫痫者96例(48%),平均为26.14个月,<3岁者有78例,占81.3%;所有癫痫者[痴笑样癫痫和(或)癫痫大、小发作]123例(61.5%),平均发病年龄为3.81岁,≤3岁前发病者有90例,占73.2%.结论 下丘脑错构瘤多数在婴幼儿期发病,男性多于女性.     

下丘脑错构瘤214例临床特征分析

目的 分析下丘脑错构瘤的临床特征.方法 回顾分析1994年1月至2008年5月北京天坛医院诊治的214例下丘脑错构瘤的临床资料.结果 性别:男性多于女性,男女之比为1.52:1;有性早熟的115例中,男女之比为1.09:1;有癫痫的123例中男女之比为2.15:1;有痴笑样癫痫的96例中男女之比为2:1;同时表现为性早熟及癫痫的38例中男女之比为1.38:1.发病年龄:200例有症状的病例,平均发病年龄为34.5个月;发病年龄≤3岁者157例,占78.5%;单纯性早熟者77例(38.5%),平均发病年龄16.5个月,<3岁者67例,占87%;表现有性早熟者115例(57.5%),平均发病年龄为17.63个月,发病<3岁者99例,占86.1%;有痴笑样癫痫者96例(48%),平均为26.14个月,<3岁者有78例,占81.3%;所有癫痫者[痴笑样癫痫和(或)癫痫大、小发作]123例(61.5%),平均发病年龄为3.81岁,≤3岁前发病者有90例,占73.2%.结论 下丘脑错构瘤多数在婴幼儿期发病,男性多于女性.     

下丘脑错构瘤214例临床特征分析

目的 分析下丘脑错构瘤的临床特征.方法 回顾分析1994年1月至2008年5月北京天坛医院诊治的214例下丘脑错构瘤的临床资料.结果 性别:男性多于女性,男女之比为1.52:1;有性早熟的115例中,男女之比为1.09:1;有癫痫的123例中男女之比为2.15:1;有痴笑样癫痫的96例中男女之比为2:1;同时表现为性早熟及癫痫的38例中男女之比为1.38:1.发病年龄:200例有症状的病例,平均发病年龄为34.5个月;发病年龄≤3岁者157例,占78.5%;单纯性早熟者77例(38.5%),平均发病年龄16.5个月,<3岁者67例,占87%;表现有性早熟者115例(57.5%),平均发病年龄为17.63个月,发病<3岁者99例,占86.1%;有痴笑样癫痫者96例(48%),平均为26.14个月,<3岁者有78例,占81.3%;所有癫痫者[痴笑样癫痫和(或)癫痫大、小发作]123例(61.5%),平均发病年龄为3.81岁,≤3岁前发病者有90例,占73.2%.结论 下丘脑错构瘤多数在婴幼儿期发病,男性多于女性.     

下丘脑错构瘤214例临床特征分析

目的 分析下丘脑错构瘤的临床特征.方法 回顾分析1994年1月至2008年5月北京天坛医院诊治的214例下丘脑错构瘤的临床资料.结果 性别:男性多于女性,男女之比为1.52:1;有性早熟的115例中,男女之比为1.09:1;有癫痫的123例中男女之比为2.15:1;有痴笑样癫痫的96例中男女之比为2:1;同时表现为性早熟及癫痫的38例中男女之比为1.38:1.发病年龄:200例有症状的病例,平均发病年龄为34.5个月;发病年龄≤3岁者157例,占78.5%;单纯性早熟者77例(38.5%),平均发病年龄16.5个月,<3岁者67例,占87%;表现有性早熟者115例(57.5%),平均发病年龄为17.63个月,发病<3岁者99例,占86.1%;有痴笑样癫痫者96例(48%),平均为26.14个月,<3岁者有78例,占81.3%;所有癫痫者[痴笑样癫痫和(或)癫痫大、小发作]123例(61.5%),平均发病年龄为3.81岁,≤3岁前发病者有90例,占73.2%.结论 下丘脑错构瘤多数在婴幼儿期发病,男性多于女性.     

A case of hypothalamic hamartoma with refractory seizures: successful treatment with gamma knife surgery

Hypothalamic hamartomas are associated with precocious puberty and gelastic epilepsy. The seizures are often refractory to antiepileptic medications. The treatment of hamartoma is not well established. We report a 3-year-6-month-old boy was admitted because of intractable seizures occurring several times a day. The findings on magnetic resonance imaging and his characteristic seizure led to the diagnosis of hypothalamic hamartoma. The seizures were resistant to multiple antiepileptic drugs, and persisted for about 3 years, during which his cognition deteriorated. Focal radiosurgery by a gamma knife of the hamartoma successfully controlled the seizures with no neurological complications, and his mental function improved.     

Gelastic Epilepsy and True Precocious Puberty due to Hypothalamic Hamartoma

A new case of gelastic epilepsy and precocious puberty due to hypothalamic hamartoma is reported. After long-term medical treatment there was no observable neurological or endocrinological improvement and the clinical outcome was poor. The authors consider that early surgery for hamartoma should be reconsidered.     

Clinical and electroencephalogram study of 5 children with hypothalamic hamartoma

We retrospectively studied 5 children with hypothalamic hamartoma (HH) to elucidate the clinical, neuroimaging and electroencephalogram (EEG) characteristics of this disorder. In all cases, high resolution MRI scans demonstrated an intrahypothalamic mass protruding into the 3rd ventricle. An initial symptom was epileptic attack in 4 cases and precocious puberty in the remaining one. Gelastic seizures developed in 4 of 5 patients at ranging from 2 days to 11 years of age. The ictal EEGs during the gelastic seizures showed diffuse attenuation of background activity, followed by rhythmic slow discharges either diffusely or in the central area. Gamma-knife radiosurgery was performed on 2 cases whose seizures were resistant to available antiepileptic drugs. One of the 2 patients was responded significantly to this treatment, showing the disappearance of combined attacks and a marked reduction of the generalized spike-waves discharges. A more aggressive therapy, including gamma-knife radiosurgery and surgical treatment, should be considered for patients whose seizures are resistant to the medical treatment and causing deterioration of intelligence and behavioral problem.     

Successful treatment of hypothalamic seizures and precocious puberty with GnRH analogue

Patients with hypothalamic hamartomas and precocious puberty may develop gelastic seizures that are resistant to conventional antiepileptic drug therapies. While treating precocious puberty in two such patients with long-acting GnRH analogue, the authors observed cessation of gelastic seizures. Although the mechanism is unclear, long-acting GnRH analogue should be considered as a possible therapy for gelastic seizures in patients with hypothalamic hamartomas.     

The clinical spectrum and natural history of gelastic epilepsy-hypothalamic hamartoma syndrome.

PURPOSE: To delineate the clinical spectrum and patterns of evolution of epilepsy with gelastic seizures related to hypothalamic hamartoma (HH). PATIENTS AND METHODS: We evaluated patients with HH, observed between 1986 and 2002 for whom at least one ictal video-EEG or EEG recording of gelastic seizures was available. RESULTS: Six subjects (four male, two female) with sessile HH between 0.8 and 1.7 cm in diameter were identified. The onset of gelastic seizures was between 2 months and 20 years. It evolved to secondary generalized epilepsy in one case, and to drug-resistant partial epilepsy in the other five from 2 to 13 years after onset. No patient showed precocious puberty. Severe cognitive impairment developed in the patient with secondary generalized epilepsy, and a mild cognitive defect in two others. Patients with an HH below 1cm did not show neuropsychological or behavioural disturbances. Drug resistance occurred in all cases. Surgical removal of HH markedly improved the clinical evolution in two patients. CONCLUSIONS: Gelastic epilepsy-HH syndrome can differ in severity and evolution. A catastrophic evolution and drug resistance can be reversed by surgical or by gamma-knife ablation of HH.     

Hamartoma hipotalámico en la edad pediátrica: características clínicas,evolución y revisión de la literatura

Objective

To describe the epidemiological and clinical-electroencephalographic characteristics, and associated morbidity of patients with hypothalamic hamartoma, as well as the treatment followed and outcomes

Patients and methods

We have retrospectively reviewed the medical histories of 10 patients diagnosed with hypothalamic hamartoma by magnetic resonance imaging over the last 20 years.

Results

The age of onset of epilepsy in patients with hypothalamic hamartoma in our series was between the first days of life and 2 years. Of the 10 total patients, 8 had epileptic seizures during its progress. All of them had gelastic seizures, in addition to other types of seizures, with the most common being partial simple seizures. The electroencephalographic findings recorded were highly variable. One of the patients developed epileptic encephalopathy. Five patients had some kind of conduct disorder. Five patients had cognitive problems. At least 2 different antiepileptic drugs were measured in 8 of the patients who had seizures, and in 6 of these some type of non-pharmacological treatment had been used with the objective of seizure control. Only in 3 of 8 patients has been achieved Acceptable control of epilepsy had only been achieved in 3 out the 8 patients. Five patients of the series developed precocious puberty. The average time of follow-up of the series was approximately 6 years.

Conclusions

Epilepsy is the most frequent manifestation of hypothalamic hamartomas. Most cases were drug-resistant, which led to difficulties in the management of these patients, requiring surgery for their control on many occasions. Psychiatric comorbidity and cognitive impairment is common.     

Gelastic seizures associated with hypothalamic hamartomas. An update in the clinical presentation,diagnosis and treatment

Gelastic seizures are epileptic events characterized by bouts of laughter. Laughter-like vocalization is usually combined with facial contraction in the form of a smile. Autonomic features such as flushing, tachycardia, and altered respiration are widely recognized. Conscious state may not be impaired, although this is often difficult to asses particularly in young children. Gelastic seizures have been associated classically to hypothalamic hamartomas, although different extrahypothalamic localizations have been described. Hypothalamic hamartomas are rare congenital lesions presenting with the classic triad of gelastic epilepsy, precocious puberty and developmental delay. The clinical course of patients with gelastic seizures associated with hypothalamic hamartomas is progressive, commencing with gelastic seizures in infancy, deteriorating into more complex seizure disorder resulting in intractable epilepsy. Electrophysiological, radiological, and pathophysiological studies have confirmed the intrinsic epileptogenicity of the hypothalamic hamartoma. Currently the most effective surgical approach is the trancallosal anterior interforniceal approach, however newer approaches including the endoscopic and other treatment such as radiosurgery and gamma knife have been used with success. This review focuses on the syndrome of gelastic seizures associated with hypothalamic hamartomas, but it also reviews other concepts such as status gelasticus and some aspects of gelastic seizures in other locations.     

Ictal Laughter Associated with Paroxysmal Hypothalamopituitary Dysfunction

Summary: Purpose : Seizures with ictal laughter (also termed gelastic seizures) have been associated with hypothalamic hamartomas and precocious puberty. It is not known, however, where in the brain such seizures originate. We describe a child with gelastic seizures and a hypothalamic lesion (probably a hamartoma) in whom two dysfunctional phenomena were observed.
Results : First, there was a hyperperfusion in the hypothalamopituitary areas shown by ictal [^99m]Tc hexamethyl-propyleneamine oxime (HM-PAO) single photon-emission computed tomography (SPECT). Second, there was an ictal pulse of gonadotropins, 17β-estradiol, and growth hormone well above the normal limits in one of the seizures.
Conclusion : These findings suggest that gelastic seizures associated with hypothalamic hamartomas are generated in the hypothalamus or in its neighboring regions and that these seizures may cause paroxysmal dysfunction of the hypothalamo-pitutary axis.