Pallister-Hall综合征一例报告并文献复习

目的探讨Pallister-Hall综合征的临床特点、诊断及治疗。方法报告1例男性患者,合并有多指(趾)、指甲发育不良、会厌纵裂畸形、尿道下裂畸形,临床表现为癫痫发作的下丘脑错构瘤。结果翼点入路部分切除肿物,病理证实为下丘脑错构瘤,临床诊断为Pallister-Hall综合征。结论Pallister-Hall综合征是极为罕见的先天性发育畸形。     

Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate and severe mental retardation: a possible new syndrome

A male infant was born with severe hydrocephalus, bilateral cleft lip/palate, left anophthalmos and right microphthalmos, and an equino-varus foot deformity. Imaging studies showed enlarged lateral ventricles, apparent absence of the corpus callosum and a midline density in the third ventricular region. He had a normal male karyotype. He was severely mentally retarded and died suddenly at 7 years of age. Neuropathological examination of the brain revealed enlarged and polygyric cerebral hemispheres, due to congenital obstructive hydrocephalus, and secondary thinning of the corpus callosum. An unusually large neuronal hamartoma filled the interpeduncular fossa and third ventricle. It was continuous posteriorly with the left thalamus and so was classified as diencephalic rather than as hypothalamic. The right optic nerve merged with the hamartoma, whereas the left nerve was absent. Microscopically the hamartoma consisted of mature grey matter interspersed with narrow bands of white matter. No immature or non-neural elements were identified. This combination of diencephalic neuronal hamartoma, hydrocephalus, ocular and craniofacial abnormalities has not, to our knowledge, previously been described. Received: 9 July 1999 / Revised: 10 September 1999 / Accepted: 14 September 1999     

INFANTILE HYPOTHALAMIC HAMARTOMA WITH MULTIPLE CONGENITAL ABNORMALITIES

This case report describes a hypothalamic hamartoma with multiple congenital abnormalities in a male infant, with a post-mortem examination and histology of the lesion.     

Is There an Association between Maternal Carbamazepine Use during Pregnancy and Eye Malformations in the Child?

PURPOSE: To check for an association between carbamazepine (CBZ) use by the mother during pregnancy and congenital eye malformations (i.e., anophthalmia, microphthalmia, and coloboma) in the child, as suggested by Sutcliffe et al. (1998), who reported four cases. METHODS: We checked all the cases with these eye malformations for CBZ use by the mother in the EUROCAT Northern Netherlands dataset, which registers infants with congenital malformations and records possible teratogenic exposures (including medication taken by the mother). We also reviewed 13 studies in the literature. RESULTS: The EUROCAT dataset recorded 77 cases of anophthalmia, microphthalmia, or coloboma, but none with prenatal exposure to CBZ. Prenatal CBZ exposure was recorded in seven other cases without congenital eye malformation. Large studies in the literature on the teratogenic effects of CBZ (and other antiepileptic drugs), including data from the MADRE database, revealed no association between these congenital eye malformations and prenatal CBZ exposure. One case reported bilateral anophthalmia and other congenital anomalies after prenatal exposure to CBZ in combination with vigabatrin and dexamethasone. CONCLUSIONS: Our data do not support Sutcliffe's suggestion that prenatal CBZ exposure may result in congenital eye malformations. However, despite the large population represented, both the low birth prevalence of these congenital eye malformations and the low prevalence of CBZ exposure during pregnancy make it difficult to exclude an increased relative risk. The many large prospective and retrospective studies in the literature seem to agree with our findings, although there is still uncertainty about the teratogenic effect of CBZ in polytherapy.     

立体定向射频毁损治疗下丘脑错构瘤伴癫痫病例报导并文献复习

目的 总结立体定向射频毁损手术方法,治疗下丘脑错构瘤伴癫痫的临床疗效,并分析毁损靶点位置的选择.方法 回顾性分析1例下丘脑错构瘤伴癫痫患者临床资料,并复习文献.患者女性,9岁,痴笑癫痫8年,继发复杂部分性发作3年,MRI提示下丘脑错构瘤.局麻下行立体定向射频毁损手术.结果 术后一周有尿量增多,无其它手术并发症.术后痴笑发作消失,复杂部分性发作减少.结论 立体定向射频毁损手术对于下丘脑错构瘤伴癫痫是一种安全有效的治疗方法,毁损靶点定位应包括错构瘤中心及错构瘤边缘乳头体丘脑束部位.     

长程视频脑电监测在下丘脑错构瘤诊断治疗中的应用(附5例报告)

目的探讨长程视频脑电监测在下丘脑错构瘤诊断治疗中的应用意义。方法回顾性分析5例下丘脑错构瘤长程视频脑电(VEEG)特征,VEEG结合磁共振成像(MRI)、发作间期正电子发射计算机断层扫描(PET)检查诊断定位。结果发作间期清醒平静状态脑电图表现:双侧波形均呈不对称表现,双侧存在广泛单发性棘慢波或者双侧广泛不规则θ或δ波,一侧波幅优势,主要为一侧额叶优势,2例左侧优势,3例右侧优势,优势侧别同MRI显示的错构瘤侧别一致;睡眠期脑电图表现:存在基本睡眠标志波形与睡眠周期,间有较多量棘慢波或多棘慢波,存在形式同间期清醒平静状态;5例均捕获临床发作过程,共计13次,其中痴笑发作8次、痴笑发作继发全身强直阵挛5次,发作期脑电图表现:3例为去同步化低电压数秒后EEG混合肌电干扰,2例以肌电伪差为主。MRI结果:下丘脑脚间池处部位可见占位性改变,位于左侧半球2例、右侧半球3例。PET结果:MRI所提示的占位性改变区域均显示低代谢。5例均手术彻底去除错构瘤,随访5例患者术后均无痴笑发作或继发全身强直阵挛。结论长程视频脑电监测结合MRI及PET检查对下丘脑错构瘤诊断定位准确性高,手术治疗下丘脑错构瘤是最佳选择。     

Psychogenic gelastic seizures in a patient with hypothalamic hamartoma

Gelastic seizures are classically associated with hypothalamic hamartoma. The most effective treatment for gelastic epilepsy is surgery, although confirming that a hypothalamic hamartoma is an epileptic lesion prior to surgical intervention is challenging. Here, we report the case of a patient with a hypothalamic hamartoma who was diagnosed with psychogenic non-epileptic gelastic seizures using video-EEG monitoring. [Published with video sequences].     

儿童下丘脑错构瘤导致癫痫的手术治疗

目的 探讨儿童下丘脑错构瘤导致癫痫的手术治疗。方法 报告儿童下丘脑错构瘤11例，男6例，女5例，年龄为2-15岁，发病年龄为2个月至14岁。首发症状为痴笑样癫痫者10例。为癫痫大发作者1例，伴发性早熟6例，伴发跌倒发作3例，伴发癫痫大发作6例。手术；翼点入路10例，终板入路1例，术中错构瘤深部电极检测4例。结果 全切错构瘤2例，大部切除8例，部分切除1例。术中错构瘤深部电极显示棘波1例。随诊19至90个月，痊愈2例，有效9例，术后一过性动眼神经麻痹3例。结论 手术切除错构瘤可有效治疗儿童下丘脑错构瘤导致的癫痫。     

Stereotactic radiofrequency thermocoagulation for hypothalamic hamartoma with intractable gelastic seizures

Management of hypothalamic hamartoma with intractable gelastic epilepsy remains controversial. We have used stereotactic thermocoagulation for treatment of hypothalamic hamartoma with intractable gelastic epilepsy since 1997. Herein, we review our experience in five cases to clarify the usefulness of this treatment. A total of five patients with hypothalamic hamartoma were treated by stereotactic thermocoagulation at our hospital during the period October 1997 through February 2004. In all patients, the hamartoma was less than 10mm in diameter and was located on the floor of the third ventricle with sessile attachment to the wall. To identify ictal onset, chronic intracranial electroencephalography was performed in three patients with the use of a depth electrode implanted in the hamartoma. Attempts were made to induce gelastic seizure by electrical stimulation of the hamartoma in three patients. After magnetic resonance imaging-guided targeting, radiofrequency thermocoagulation of the boundary between the hamartoma and normal hypothalamus was performed to achieve disconnection effects. Marked reductions in seizure frequency were obtained in all cases, with three patients becoming seizure-free after the procedure. No intraoperative complications occurred except in one patient who experienced acute and transient panidrosis with hot flushes during coagulation. Our results suggest that stereotactic thermocoagulation of hypothalamic hamartoma is an acceptable treatment option for patients with intractable gelastic seizures.     

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。     

下丘脑错构瘤所致单纯性早熟的显微外科治疗

目的 探讨下丘脑错构瘤导致性早熟的手术治疗。方法 回顾分析１９９９年３月至２０００年７月收治的６例下丘脑错构瘤导致的单纯性早熟，男女各３例，平均发病年龄７．３个月，就诊年龄１３个月至５岁，平均为２岁６个月。均表现为生长发育快，骨龄明显大于实际年龄，性激素达到青春期水平；女孩表现为乳房发育，来月经；男孩表现为阴茎和睾丸增大，易勃起，面部痤疮等。ＭＲＩ显示垂体柄后上方灰结节部位皮质样信号肿物，注药无强     

Gelastic seizure with hypothalamic hamartoma: proton magnetic resonance spectrometry and ictal electroencephalographic findings in a 4-year-old girl

Gelastic seizure is a rare symptom often associated with hypothalamic hamartoma. We present here a 4-year-old girl with gelastic epilepsy caused by hypothalamic hamartoma and report the magnetic resonance spectrometry and electroencephalographic (EEG) findings. At the age of 2 1/2 years, she developed brief, repetitive laughing attacks or mixed attacks with laughing and crying, which were refractory to carbamazepine. An interictal EEG showed intermittent slow waves in the left frontocentral region and sporadic positive sharp waves in the left centroparietal area. Ictal EEG demonstrated dysrhythmic theta activity in the left central area 3 seconds after the onset of laughing. Brain magnetic resonance imaging demonstrated a large sessile mass, isointense to gray matter, in the region of the hypothalamus, suggesting hypothalamic hamartoma. Proton magnetic resonance spectrometry of the hypothalamic hamartoma revealed a significant reduction of the N-acetylaspartate/serum creatinine ratio. The altered chemical shift imaging with magnetic resonance spectrometry in our patient suggests a biochemical abnormality in the tissue of the hypothalamic hamartoma. Moreover, this abnormal function of the hamartoma tissue might be closely related to epileptogenesis because the time difference between the ictal laughter and the subsequent EEG changes in the ictal EEG does not support the idea that the activated cortex is the epileptogenic focus.     

Intractable gelastic seizures during infancy: ictal positron emission tomography (PET) demonstrating epileptiform activity within the hypothalamic hamartoma

Gelastic seizures comprise a very rare form of epilepsy. They present with recurrent bursts of laughter voices without mirth and are most commonly associated with the evolution of a hypothalamic hamartoma. The purpose of this article is to describe the second reported ictal fluorodeoxyglucose-positron emission tomography study in a unique case of an infant with intractable gelastic seizures since the neonatal period associated with a hypothalamic hamartoma. The patient presented at 4 months old with recurrent, almost persistent, gelastic seizures consisting of laughter bouts without mirth. The seizures were noticeable at the first week of life and increased in frequency to last up to 12 hours, namely status gelasticus. These gelastic fits were accompanied with focal motor seizures, including unilateral right-eye blinking and mouth twitching. Developmental mile-stones were intact for age. Magnetic resonance imaging of the cortex demonstrated a large hypothalamic hamartoma within the third ventricle, hampering cerebrovascular fluid drainage of the lateral ventricles. An electroencephalography was nondiagnostic. Ictal fluorodeoxyglucose-positron emission tomography demonstrated a large circumscribed hypermetabolic region within the location of the hypothalamic hamartoma, representing localized intense epileptiform activity. The infant became instantly free of all seizure types given minute doses of oral benzodiazepine (clonazepam) and remains completely controlled after 12 months. Her overall development remains intact. This ictal fluorodeoxyglucose-positron emission tomography is the second reported study verifying that the main source of the epileptic activity inducing gelastic seizures originates from the hypothalamic hamartoma itself; therefore, a complementary fluorodeoxyglucose-positron emission tomography study should be considered in any patient presenting with intractable gelastic seizures, especially in those associated with hypothalamic hamartoma, in order to localize the region of epileptiform activity amenable to surgical resection if intensive drug therapy fails.     

Pediatric-onset gelastic seizures: clinical data and outcome

Gelastic seizures are an extremely rare form of epilepsy defined as automatic bouts of laughter without mirth commonly associated with a hypothalamic hamartoma. The objective was to survey all Israeli children found to develop recurrent gelastic seizures and report presenting symptoms, electroencephalographic and radiologic data, and response to either antiepileptic drugs or surgery. Ten children who developed gelastic seizures at the age of 1 week to 6.5 years (mean, 25 months) at a frequency from 3 bouts per week to >10 prolonged bouts per day were followed for a period of 1.3-12 years (mean, 6 years). Seven cases were defined as symptomatic: cortical magnetic resonance imaging revealed a hypothalamic hamartoma in four patients and cortical abnormalities in three others. Seizure control was achieved in four patients, including a neonate with status gelasticus and hypothalamic hamartoma, and partial control in one more. Five children remained resistant to polytherapy, including three with hypothalamic hamartoma even after two of them underwent hemartoma excision. Thus, children with gelastic seizures may respond relatively well to drug therapy. Four of the 10 patients became seizure free with drug therapy; in three intractable symptomatic cases, surgery was tried but failed in two of the three.     

Callosotomy for generalized seizures associated with hypothalamic hamartoma

Abstract

A case is reported of intractable epilepsy associated with a hypothalamic hamartoma in an 18 year old man. The patient underwent a two-third anterior callsotomy and, subsequently, removal of the hamartoma. CaUosotomy did not affect the generalized seizure pattern. The authors believe this to be the first documented case of hypothalamic hamartoma in which callosotomy for seizure control was attempted. The poor response to callosotomy suggests the extracallosal diffusion of the generalized seizures from hypothalamic hamartomas. [Neurol Res 1993; 15: 139-141]     

Rare combination of gelastic epilepsy, agenesis of the corpus callosum, and hamartoma

Gelastic seizures are rare and are associated with different conditions, but mainly with hypothalamic hamartoma. We report on a boy who presented with mental retardation, aggressive behavior, and generalized tonic-clonic and gelastic seizures. Cranial imaging studies revealed a very rare combination of hypothalamic hamartoma and agenesis of the corpus callosum, which was only reported once previously. His seizure activities demonstrated a modest response to anticonvulsants.     

立体定向射频毁损治疗表现为痴笑性癫癎的下丘脑错构瘤

目的总结采用立体定向热凝毁损手术方法治疗引起痴笑性癫癎的下丘脑微小错构瘤的经验。方法报告1例病人,男性,22岁,表现为痴笑性癫癎21年,继发复杂部分性发作7年,发作3～4次/d,药物治疗无效。MRI诊断为第三脑室内错构瘤,大小6mm×6mm×7mm。局麻下采用有框架立体定向技术,在病变内插入深部电极,记录并刺激后行射频毁损,制作4个靶点。结果深部电极在病灶内记录到棘波和慢波,刺激未诱发出痴笑性癫癎。术中行可逆毁损（45℃）和毁损（70℃）时,病人出现一过性中枢性高热、高血压和心动过速。术后随访6个月,痴笑性癫癎和复杂部分性发作完全消失,无手术并发症发生。结论下丘脑受到直接热刺激时可产生中枢性高热。对于较小的下丘脑错构瘤,立体定向热凝毁损术是一种安全有效的手术方法。     

New Syndrome With the Sakoda Complex, Bilateral Anophthalmia, and Cortical Dysgenesis

An 8-year-old Japanese boy had Sakoda complex (basal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate) associated with bilateral anophthalmia, dysgenesis of the cerebral cortex, severe mental retardation, and intractable epilepsy as core symptoms and hemiparesis, microcephalus, short stature, and hemivertebra. Tada and Nakamura described the first case of the Sakoda complex associated with bilateral anophthalmia, cortical dysgenesis, neonatal-onset seizures, and severe mental retardation. Fourteen patients with the Sakoda complex with or without ocular dysplasia were reviewed. It is proposed that these cases belong to a clinical entity that is distinguishable from the remaining 12 patients because of bilateral anophthalmia, cortical dysgenesis, and its resulting severe mental retardation and intractable epilepsy. There is a possibility that these two cases are one severe end of certain spectrum disorders in which certain common gene(s) might be implicated.     

Gelastic epilepsy without hypothalamic hamartoma: Three additional cases

We describe three children with gelastic seizures without hypothalamic hamartoma whose seizures were characterized by typical laughing attacks associated or not with other seizure types. Ictal/interictal EEG and magnetic resonance imaging were performed. All three subjects showed a good response to carbamazepine therapy with complete seizure control in addition to a benign clinical and cognitive outcome. These three cases confirm that gelastic epilepsy without hypothalamic hamartoma, both in cryptogenic or symptomatic patients (one child showed a dysplastic right parietotemporal lesion), usually has a more benign natural history, and carbamazepine seems to be the most efficacious therapy to obtain both immediate and long-term seizure control. These findings need to be confirmed in a larger sample of children affected by gelastic epilepsy without hypothalamic hamartoma.     

Gelastic seizures and low-grade hypothalamic astrocytoma: a case report

The typical, well recognized childhood epilepsy syndrome caused by hypothalamic hamartoma is characterized by early-onset, stereotyped attacks of uncontrollable laughter, frequent refractory seizures with progressive cognitive deterioration and severe behavioral problems. Here, we report a 17-year-old patient with gelastic phenomenon started in the neonatal period, later on associated with drug resistant polymorphic seizures, intellectual deficit and behavioral disorders, who improved by partial resection of an expected hypothalamic hamartoma that, in turn, resulted to be a hypothalamic low-grade astrocytoma.