儿童下丘脑错构瘤三例报道及文献复习

目的 探讨儿童下丘脑错构瘤的临床表现、诊断及治疗方法.方法 回顾性分析复旦大学附属儿科医院2012年6月至2013年10月收治的3例下丘脑错构瘤患儿的临床资料,并通过PubMed检索Medline数据库、检索Springer Link,中国知网(CNKI)、万方数据库,对儿童下丘脑错构瘤的中英文文献进行系统性的综述.其中,男2例,女1例;年龄3～6岁,平均4岁;都表现为痴笑性癫痫及不同程度的性早熟.本组均采用翼点入路及经胼胝体-穹窿间入路行外科手术.结果 3例错构瘤均部分切除,术后痴笑性癫痫症状较前略有改善,其中1例并发严重脑干损伤及脑积水,行手术分流,辅以高压氧及康复训练后症状较前好转.结论 下丘脑错构瘤是婴幼儿颅内罕见的“良性肿瘤”,根据其特有的临床症状及典型的MRI表现,不难做出诊断,治疗以手术为主,总体预后良好.     

显微手术治疗儿童下丘脑错构瘤六例及文献回顾

目的 探讨显微手术治疗儿童下丘脑错构瘤的适应证、安全性及疗效.方法 回顾性分析空军军医大学第二附属医院2016—2020年经显微手术治疗的6例儿童下丘脑错构瘤临床资料.男5例,女1例,平均年龄4.3岁;2例表现为性早熟,4例表现为痴笑性癫痫,其中1例为Pallister-Hall综合征.6例均经影像学检查确诊.罗氏分型...     

儿童下丘脑错构瘤的临床及影像学表现

目的：为了提高对下丘脑错构瘤影像学和临床表现的认识,该文主要研究下丘脑错构瘤的临床特点、CT及MRI影像学表现。方法：回顾性分析了38例下丘脑错构瘤的CT及MRI影像资料。其中男25例、女13例,发病年龄1个月至15岁。38例均进行了MR扫描,10例又进行了CT扫描。38例全部经手术、病理证实。结果：主要临床表现为痴笑样癫癎、性早熟、其他类型癫癎（包括癫癎大发作及肢体抽搐等）和智力障碍。其中首发症状为痴笑样癫癎17例,性早熟13例,其他类型癫癎8例。影像学表现为脚间池占位,CT为等密度,MRI为等或稍长T1等或稍长T2信号影,增强扫描病变无强化。临床表现与病灶的大小以及是否有蒂无明显关系。结论：儿童出现性早熟和/或痴笑样癫癎,影像表现为脚间池占位,CT等密度,MRI等或稍长T1等或稍长T2信号影,增强扫描病变无强化,此时应考虑到下丘脑错构瘤。［中国当代儿科杂志,2009,11（5）：364-366］     

伽玛刀治疗儿童下丘脑错构瘤24例

目的 探讨伽玛刀治疗儿童下丘脑错构瘤(HH)的疗效.方法 回顾性分析本院伽玛刀治疗中心1997-2006年使用OUR-XGD型旋转式伽玛刀治疗24例HH患儿的临床资料.男9例,女15例;首发症状为性早熟19例(79.17%),痴笑性癫癎5例(20.83%);有手术史6例(25%);诊断依据性早熟、痴笑性癫癎和MRI表现;症状随访24～91个月;影像学随访24～82个月;以肿瘤体积缩小和不变为肿瘤局部控制;治疗边缘剂量9～18 Gy,中心剂量26.7～36.0 Gy,等剂量曲线45%～55%.结果 24例中症状改善6例(25%),痴笑性癫癎改善优于性早熟;19例肿瘤体积(79.17%)缩小,5例(20.83%)不变,肿瘤控制率达100%.无1例出现视神经损伤.结论 伽玛刀可作为HH患儿主要治疗手段之一,对于术后残余肿瘤更具意义.     

小儿侧裂池蛛网膜囊肿伴发硬膜下血肿的手术治疗

目的 探讨小儿侧裂池蛛网膜囊肿伴发硬膜下血肿的临床特点、手术适应证和术式选择.方法 回顾性分析2005年7月至2015年8月,中国医科大学附属第一医院神经外科收治的50例小儿侧裂池蛛网膜囊肿伴硬膜下血肿患儿的临床资料,其中亚急性硬膜下血肿者20例,慢性硬膜下血肿者30例,所有患儿均行血肿清除、显微囊肿切除、脑池沟通术,术中尽可能全切囊肿壁,并与蛛网膜下腔、脑池相沟通.结果 所有患儿手术过程均较顺利,术后未出现严重并发症.患儿术后原有症状及影像学表现均有不同程度的改善,平均随访5.7年无复发病例.结论 小儿侧裂池蛛网膜囊肿可引发硬膜下血肿,一旦发生,适合行显微囊肿切除、脑池沟通、血肿清除术.     

手术治疗31例小儿颅咽管瘤临床分析

目的：为了提高对儿童颅咽管瘤的诊断率以及减少术后并发症的发生,该研究探讨小儿颅咽管瘤的诊断方法、手术方式及术后并发症的防治。方法：回顾性分析31例小儿颅咽管瘤的临床表现、手术方法和术后并发症治疗的经验。结果：31例患儿主要临床表现为：头痛,视力下降,生长发育迟缓等。CT和MRI可确诊颅咽管瘤。31例颅咽管瘤中,肿瘤全切除 19例（61.3%）,次全切除5例（16.1%）,大部分切除7例（22.6%）。术后出现尿崩症者19例（61.3%）,3例为长期性尿崩。6例（19.4 %）出现下丘脑损伤症状。无死亡病例。随访32.5个月, 5例（16.1%）患儿复发。结论：小儿颅咽管瘤的诊断主要依据临床表现、CT和MRI检查,该病以开颅手术治疗为首选。肿瘤切除的程度应考虑降低肿瘤的复发和减少并发症的发生为原则。［中国当代儿科杂志,2009,11（8）：663-665］     

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目的分析男性儿童同性性早熟的病因及临床特点。方法回顾性分析1988年1月至2009年4月中山大学附属第一医院收治的明确病因诊断的78例男性同性性早熟病例的病因及临床特点。结果中枢性性早熟(CPP)55例(70.51%),按构成比前三位病因为特发性性早熟、下丘脑错构瘤、先天性肾上腺皮质增生症(CAH)继发,其中下丘脑错构瘤患儿就诊年龄小、GnRHa激发试验后LH浓度最高,CAH患儿骨龄提前最多、HtSDSba负值最大;外周性性早熟(PPP)23例(29.49%),分泌HCG生殖细胞瘤和CAH为主要病因,CAH患儿由PPP转变为CPP的比例较大(5/9),尤其是初治年龄较大者更易发生。分泌HCG的生殖细胞瘤血和(或)脑脊液的β-HCG水平均升高。结论男性儿童性早熟以器质性病变引起多见,在诊治过程中应积极寻找病因。     

儿童Rathke囊肿的临床特点及显微外科治疗

目的分析、探讨儿童Rathke囊肿的临床特点及其显微外科治疗。方法回顾性分析了我院1993年6月至2004年3月间经手术及病理证实的20例儿童Rathke囊肿病例。患儿的主要临床表现为内分泌异常、视觉障碍、头痛。所有患儿均接受了显微外科手术治疗，其中经蝶手术3例，经额开颅17例；全切8例，近全切5例，大部切除7例。结果本组患儿术后随访5个月至8年，绝大部分患儿症状消失或改善，且均无复发。其中，内分泌异常表现明显减轻或消失者14例，占(14／18)77．8％；头痛症状消失者10例，占(10／12)83．3％；视觉障碍患儿的视力均得到改善。结论儿童Rathke囊肿术前确诊困难，影像学检查无特异性。对于儿童症状性Rathke囊肿，显微手术可明确诊断、改善症状，患儿预后均良好。显微外科手术是治疗本病的有效方法。     

儿童Sturge-Weber综合征继发癫痫的外科治疗

目的 总结儿童Sturge-Weber综合征继发癫痫的外科治疗经验。方法 回顾性分析2016年1月至2018年6月在我科住院并接受外科手术治疗的8例儿童Sturge-weber综合征继发癫痫患者临床资料,其中男2例,女6例。年龄5个月至4岁,平均年龄26.25个月,3岁以下婴幼儿7例,3岁以上1例。病程时间为2 d至2年,平均8.90个月。对8例患儿的病程、发作类型、影像学、脑电图、手术时机、手术方式、术后癫痫控制情况、并发症等做详细分析。8例患儿均进行详尽的术前评估,包括症状学,影像学,脑电图,认知功能评估等。结果 8例患儿均进行切除手术,其中多脑叶病变切除术3例,功能性大脑半球切除术5例。术后颅内感染2例,皮下积液2例,对侧肢体肌力下降5例,3例与术前相仿。术后随访6～30个月,所有患儿均无癫痫发作,按Engel分级判断疗效,EngelⅠ级8例,无死亡病例,对侧肢体肌力下降的5例患儿均在术后3个月恢复至术前水平。认知功能评估提示8例患儿均有不同程度改善。结论 Sturge-Weber综合征是儿童常见的神经皮肤综合征,癫痫是其常见表现,药物治疗效果有限,积极早期外科干预是有效的治疗方...     

儿童胚胎发育不良性神经上皮肿瘤

目的 探讨儿童胚胎发育不良性神经上皮肿瘤(dysembryo plastic neroepithelial tumor,DNT)的临床特点、诊断及手术治疗.方法 回顾性分析了2003年1月至2008年5月手术治疗的13例儿童胚胎发育不良性神经上皮肿瘤的临床和病理资料.结果 患儿以难治性癫痫为主要临床表现.本组患儿均接受了显微外科手术治疗,其中全切10例,近全切3例.磁共振成像示皮质或皮质下低T1、高T2信号,病灶边界清晰,无水肿及占位效应.肿瘤病理学检查可见特异性胶质神经元成分.随访13例患儿中2例于术后1年内出现癫痫发作,近全切的1例表现为强直性发作,全切的1例为失神性发作,均与术前发作形式相同,但发作频率明显减少(频率减少≥75%),术后随访癫痫发作控制满意.结论 DNT为良性肿瘤,手术治疗效果好.准确诊断对本病的治疗有重要意义.     

Giant hypothalamic hamartoma operated through subfrontal approach with orbitary rim osteotomy

INTRODUCTION: Hypothalamic hamartomas are associated with precocious puberty, gelastic seizures and severe refractory epilepsy. Treatment options include surgical resection, radiofrequency and radiosurgery. CASE REPORT: A 7-month-old girl presented with gelastic seizures and developmental delay related to a giant hypothalamic hamartoma. The patient was operated through a subfrontal approach. Intraoperatively the lesion appeared intimately adherent to the right internal carotid artery. Seizure control was improved after tumoral decompression. CONCLUSIONS: Treatment of giant hypothalamic hamartomas should always include surgical resection, given the mass effect over surrounding vital structures. Subfrontal approach with orbitary rim osteotomy provides a wide exposure with minimal frontal lobe retraction. Close adherence of hypothalamic hamartoma to vascular structures may be present, requiring careful surgical manipulation.     

Hypothalamic hamartoma with precocious puberty

Hypothalamic hamartoma is a rare congenital nonneoplastic heterotopia consisting of neurons, glial cells and fiber bundles. Clinically, most patients with hypothalamic hamartomas present with precocious puberty and/or gelastic epilepsy. We report an interesting case of hypothalamic hamartoma causing precocious puberty in a young male. The lesion was excised totally through frontotemporal craniotomy and transSylvian approach without any added morbidity.     

Gelastic seizures misdiagnosed as gastroesophageal reflux disease

Gastroesophageal reflux disease can have variable manifestations including regurgitation, irritability, arching, choking, and apnea. The disorder is also frequently mistaken for seizures (Sandifer syndrome). We report 6 patients in whom the opposite phenomenon occurred: their seizures were mistaken for gastroesophageal reflux disease. Six of 77 patients (6.8%) with gelastic seizures and epilepsy symptomatic of hypothalamic hamartomas were noted to be misdiagnosed with gastroesophageal reflux disease in infancy. As is typical in these patients, gelastic seizures were not diagnosed until months, or often years, later. Delayed diagnosis of hypothalamic hamartomas can lead to a potentially deleterious syndrome involving refractory epilepsy, developmental problems, and precocious puberty. Gelastic seizures should be considered among the conditions that can mimic reflux symptoms.     

Gelastic epilepsy and precocious puberty in hamartoma of the hypothalamus]

Four cases of hypothalamic hamartoma leading to gelastic epilepsy, precocious puberty and behavioural disorders are reported. Cerebral neuroradiologic examinations revealed a tumor-like mass attached to the hypothalamus in the region of the mamillary bodies in all cases. Precocious puberty developed in the two girls at 4 and 13 months but in neither of the two boys, who both suffered behaviour disturbances in the form of aggressive outbursts. A total resection of the tumors of both boys led to histologic confirmation of hamartoma. One boy was free of seizures upon follow-up, whereas seizure frequency in the other boy was reduced, while his aggressivity increased. The cases are discussed in context of current therapeutic conceptions of gelastic epilepsy and central precocious puberty.     

Hypothalamic hamartoma with gelastic seizures in Swedish children and adolescents.

BACKGROUND: Hypothalamic hamartoma with gelastic seizures (HHGS) is an uncommon, often unrecognized, epileptic syndrome with onset of symptoms during childhood. AIM: In order to study the occurrence, clinical symptoms and different investigations of HHGS in Swedish children and adolescents, a nationwide survey was undertaken. Methods. Twelve patients, three females, aged 5 to 19 years were identified and their hospital records reviewed. MRI examinations were reinvestigated. RESULTS: Gelastic seizures were noted before the age of six months in seven patients in at least three as early as the neonatal period. During the course of disease one or more other seizure types developed in 11 patients. Behaviour disorder became subsequently obvious in ten patients, and mental retardation was diagnosed in seven. Precocious puberty was diagnosed in five patients. A total of 46 MRI examinations were performed in 11 patients, revealing hypothalamic tumors, eight of which were drooping with a broad base. Interictal and ictal EEG examinations were pathological in 10 patients with nonspecific results. Nonspecific results were also found on SPECT and PET performed in six and two patients, respectively. Available antiepileptic drugs had little or no effect on gelastic seizures, but some effect on other seizure types. Precocious puberty was treated with a GnRH-agonist. Neurosurgical treatment of the hypothalamic hamartoma, performed in three patients, had a rather good outcome concerning gelastic seizures and behaviour. Vagal nerve stimulation in five patients had no effect. CONCLUSIONS: Review of the literature and experience from this group's own cases confirms that early diagnosis of HHGS is important. Hypothalamic hamartoma should be considered in any child with laughing attacks. MRI investigation is compulsory, and neurosurgery the most important treatment.     

Two Cases of Precocious Puberty Associated with Hypothalamic Hamartoma

Hypothalamic hamartoma (HH) is a congenital malformation diagnosed based on magnetic resonance imaging (MRI) and histological findings; it is often associated with central precocious puberty (CPP), gelastic seizures, abnormal behavior and mental retardation. In the present paper, we report our retrospective hypothesis that there is a relationship between symptoms and therapy, as well as the treatment for HH, and describe two cases of HH associated with CPP. Both cases had sessile masses located in the interpeduncular cistern, with extension to the hypothalamus on MRI (1.2 × 1.5 cm and 2.0 × 2.5 cm, respectively). The first case had intractable seizures, while the second had no seizures with paroxysmal discharge. In both patients, the hamartomas were partially removed, by γ-knife and surgical operation in the first case and surgically in the second, and a gonadotropin releasing hormone (GnRH) analogue was prescribed. One case showed improvement of both intelligence quotient (IQ) score and seizures, and the other showed improvements in IQ and abnormal behavior. It was difficult to determine any topology/symptom relationships. Surgery and GnRH analogue treatment can alleviate seizures, abnormal behavior and mental retardation associated with HH.     

Hamartoma of CNS associated with precocious puberty

A male infant had precocious puberty and hamartoma of the CNS. Signs of puberty appeared and progressed from 6 months of age. A computed tomographic scan disclosed an interpedunculary tumor. A craniotomy was successfully performed at 11/2 years of age, and 90% of the tumor was removed. Histologically, the tissue was identified as a hypothalamic hamartoma. Pubertal development stopped. The patient is now 4 years 9 months old and well. Review of medical literature covering a span of 47 years showed 50 cases of hamartomas in or near the hypothalamus confirmed by surgical exploration or autopsy. The male-female ratio of hamartomas with precocious puberty derived from these data is 2:1. Convulsions, mental retardation, or behavioral disorders were present in 48% of the cases; 36% had precocious puberty.     

Central precocious puberty due to hypothalamic hamartoma in a 7-month-old infant girl

Hypothalamic hamartomas (HH) are rare congenital lesions of the tuber cinereum presenting with the classic triad of gelastic epilepsy, central precocious puberty (CPP) and developmental delay. In light of the important and diverse consequences of precocious puberty for affected children and their families, a correct diagnosis without delay is imperative. We present here a rare case of a 7-month-old infant girl with CPP and HH who was successfully treated with depot gonadotropin-releasing hormone (GnRH) analogue.     

The NIH experience with precocious puberty: diagnostic subgroups and response to short-term luteinizing hormone releasing hormone analogue therapy

Between 1979 and 1983, 129 children (95 girls) with precocious puberty were referred to the National Institutes of Health and received treatment for at least 6 months with the long-acting LHRH analogue D-Trp6-Pro9-NEt-LHRH. The majority (107 of 129) of the children had central precocious puberty mediated by activation of the hypothalamic-pituitary-gonadal axis in association with hypothalamic hamartomas (24 of 107) or other central nervous system lesions (21 of 107), or idiopathic precocious puberty (62 of 107). Hypothalamic hamartomas or other central nervous system lesions were a frequent cause of central precocious puberty in girls (27 of 87), but idiopathic precocious puberty was still the most frequent diagnosis (63%). Idiopathic precocious puberty was uncommon in boys (6%). The patients with peripheral precocious puberty included six girls with McCune-Albright syndrome and six boys with familial male precocious puberty. These children had peripheral sex steroid secretion in the absence of hypothalamic-pituitary-gonadal axis maturation. The children with combined peripheral and central precocious puberty included nine children with congenital adrenal hyperplasia and one girl with a virilizing adrenal tumor. In the patients with central precocious puberty or combined peripheral and central precocious puberty, LHRHa therapy caused suppression of gonadotropin and sex steroid levels (P less than 0.001), stabilization or regression of secondary sexual characteristics, and decreases in growth rate and in the rate of bone age maturation (P less than 0.005). Patients with peripheral precocious puberty, however, had no significant change in gonadotropin or sex steroid levels, growth rate, or the rate of bone age maturation, and no improvement in secondary sexual characteristics. Thus, LHRHa is an effective treatment of central precocious puberty and combined peripheral and central precocious puberty, but is ineffective in the therapy of peripheral precocious puberty.     

Epilepsy with laughing seizures, hypothalamic hamartoma and precocious puberty. Contributions of MRI, computed EEG topography (CET) and ambulatory EEG (A-EEG)]

The concurrence of gelastic (laughing) seizures, hypothalamic hamartoma and precocious puberty constitutes a well defined epileptic syndrome in children; moreover mental retardation, neuropsychological deterioration and behavioral disorders have been often observed in these patients. In two cases we studied by means of MRI the appearance and the site of the hamartoma (in the posterior part of the hypothalamus with extension toward the third ventricle). The EEG study was performed by means of repeated recordings, of Computed EEG Topography (CET) and of Ambulatory EEG (A-EEG): in both patients during interictal periods paroxysmal EEG discharges prevailing in temporal or fronto-temporal regions and slight abnormalities of the background activity in the same areas were detected. Laughing seizures were recorded in each patient particularly by means of A-EEG: in case 1 bursts of high-voltage activity ("theta" waves) followed by depression of the background rhythm and by irregular spike discharges located in left temporal region were observed; in patient 2 irregular generalised spike discharges followed by slow waves or by depression of the background activity were seen. The presence of local abnormalities in both patients can support the hypothesis that the cortex, especially of the temporal anterior lobe, is involved in the origin of the laughing seizures. The significance of the mechanisms of secondary generalization as regards the seriousness of the epilepsy and of the mental impairment in these patients is also suggested.