非酮症性高血糖合并舞蹈症6例临床分析

目的探讨非酮症性高血糖合并舞蹈症患者的临床、影像学特点及随访结果。方法对6例非酮症性高血糖合并舞蹈症患者的临床资料、出院后随访结果进行回顾性分析。结果患者的平均起病年龄为(65.83±13.93)岁,其中女性患者5例,男性1例;急性-亚急性病程,患者表现为单侧(n=5例)或双侧肢体(n=1)舞蹈样动作,面部肌肉均有受累(n=6)。入院时静脉血糖平均值为:(9.21±5.15)mmol/L;所有患者的糖化血红蛋白显著升高:(14.1%±3.5%)。所有患者的MRI均提示基底节区T1序列高信号病灶,均累及壳核,可同时合并豆状核、尾状核受累;3例患者磁敏感成像(SWI)序列发现,对应的基底节区病灶为低信号病灶。2例患者发现大脑中动脉重度狭窄。5例患者平均随访(16.2±7.2)个月,3例患者死亡。结论颅脑MRI示基底节区T1加权序列高信号病灶是C-H-BG主要特点;患者可合并对应的SWI序列的低信号病灶。     

The germinomas arising from the basal ganglia and thalamus

Objective To introduce the features of germinomas arising from the basal ganglia (BG) and thalamus. Method Retrospective analysis was done with the clinical cases of germinomas in BG and thalamus from 1996 to 2000. The data included the symptoms, signs, neuroimaging findings, treatment, and outcomes. Result Fourteen cases were included, only one female was included. The main symptoms are disorder of numbness and weakness in limbs. Neuroimaging showed no or mild peritumor high signal in T2 weighted imaging of magnetic resonance, accompanied with cyst, calcification or bleeding. Total gross resection was obtained in nine cases, subtotal resection in four. Follow-up data were available in 11 cases with average of 56 months. Eight cases underwent only postoperative radiotherapy, one underwent only chemotherapy, and two underwent both. One case died of complication 6 months after chemotherapy, the rest lived good life. Conclusion Germinoma in BG and thalamus predominate in a boy. The neuroimaging features are very informative for diagnosis. Surgical resection should not be the first choice although it is has lesser complications. The long-term outcome is favorable.     

化、放疗联合治疗儿童颅内生殖细胞瘤34例临床随诊观察

目的：观察颅内生殖细胞瘤经过化疗并辅以中低剂量放疗后的疗效及对儿童生长发育的影响。方法：自1993年12月至2001年12月共对63例颅内生殖细胞瘤的儿童进行静脉化疗并辅以中低剂量放疗，随访到34例，其中肿瘤位于松果体区20你，松果体区并鞍区6例，鞍区4例，松果体区并脑室内3例，底节区1例。使用药物为长春新碱、甲氨蝶呤、平阳霉素及顺铂。用药后每周化验2次血常规，1次血生化，以观察周围血象变化及心、肝、肾功能情况，并进行针对性治疗。4周后如血常规及血生化的各项指标均正常，再行第二疗程化疗。2个疗程结束后1个月，在肿瘤病灶局部补充中低剂量（25-35Gy）的放疗。每个疗程间进行CT或MRI检查，观察肿瘤消退的情况。：34例患者随访最短1年，最长7年。1例为手术加全剂量放疗后2年肿瘤复发，此次化疗进行2个疗程，但化疗后未再补充放疗，4年后肿瘤复发，家属放弃治疗，患者死亡。1例化、放疗后5年肿瘤复发，再行2疗程化疗，疗效较首次治疗差，其余32例（94％）化、放疗后1-7年，复查MRI显示肿瘤无复发，患者生存质量良好，儿童生长发育及智力均未受影响。结论：静脉化疗辅以中低剂量放疗应为治疗儿童颅内生殖细胞瘤的最佳方案。     

Pathophysiological mechanism of ipsilateral cerebral and brainstem hemiatrophy in basal ganglia germ cell tumors: case report

Introduction  The basal ganglia is an uncommon location for germ cell tumors. It has been reported that basal ganglia germinomas and mixed germ cell tumors are associated with ipsilateral cerebral and brainstem hemiatrophy on presentation. Several pathophysiological mechanisms including autoimmune process and direct tumor infiltration of the thalamus or the internal capsule have been postulated to explain this association. Case reports  The authors report two boys, aged 7 and 10, with basal ganglia germ cell tumors. Both of them presented with gradual onset of hemiparesis and had features of ipsilateral cerebral and brainstem hemiatrophy on imaging studies. They underwent chemotherapy followed by reduced dose radiotherapy with good response. Discussion  Pathophysiological mechanisms of the associated ipsilateral cerebral and brainstem hemiatrophy are discussed. The authors postulate that the gradual obliteration of the perforating arteries to the diencephalon especially the lenticulostriate arteries of the prebifurcation middle cerebral artery may be the major mechanism of the associated hemiatrophy.     

Treatment of germ cell tumors in the pineal region

The authors retrospectively analyzed 107 patients with primary intracranial germ cell tumor (GCT), who were treated at the Department of Neurosurgery, Yonsei Medical Center between January 1986 and January 1996. The incidence of GCT was 2.8% in pediatric patients with intracranial tumor. Of the 107 tumors, 60 were located in the pineal region, 30 in the suprasellar region, 16 in basal ganglia or the thalamic region, and 1 in the posterior fossa. The 60 pineal GCT consisted of 39 germinomas (29 pure germinomas, 6 germinomas with STGC, 4 germinomas mixed with teratoma), 5 mature teratomas, and 16 nongerminomatous GCT. Thirty patients underwent surgery: their operations took the form of total resection in 14 cases, subtotal resection in 10, and biopsy in 6. Thirty patients (27 with germinomas, 3 with endodermal sinus tumors) were managed without surgery on the basis of radiological findings and tumor markers. The 5-year survival was 91% for 39 patients with germinomas, 80% for 5 with mature teratomas, and 49% for 16 with nongerminomatous GCT. Univariate analysis of prognostic factors with the Kaplan-Meier survival curve showed that histological tumor type, radiological findings, results of tumor marker studies, and response to trial radiation or chemotherapy were highly correlated with outcome. Chemotherapy was beneficial as the method of trial treatment in pineal GCT and treatment in recurrent tumors. The administration of trial chemotherapy or radiotherapy without tissue biopsy is well justified as a treatment modality in pineal GCT suspected on the basis of radiological findings and tumor marker studies. Aggressive multimodality approaches with surgery, radiotherapy, and chemotherapy are necessary to improve the outcome in these tumors. We propose new protocol for treatment of germ cell tumors in the pineal region, which is based on a minimally invasive approach.     

The syndrome of acute bilateral basal ganglia lesions in diabetic uremic patients

Acute extrapyramidal movement disorders have rarely been reported in uremic patients. We had previously presented three cases of acute movement disorders with bilateral basal ganglia lesions in uremia, and had proposed that it is not a rare condition. The objective of this study is to establish a more accurate clinical profile of this rarely described clinical syndrome, and to call attention to its common occurrence. We prospectively studied six patients we encountered from March 1996 to June 2001. We also reviewed the clinical records of a large population of uremic patients and identified six more cases. The clinical manifestations, laboratory findings, neuroimages, and clinical outcomes of these 12 patients were analyzed. When possible, each patient was followed up to the present time. Twelve patients had acute onset of movement disorders and bilateral basal ganglia lesions. All of the patients were diabetic. They had acute-onset Parkinsonism or dyskinesias, together with various symptoms such as consciousness disturbance, dysarthria, dysphagia, or ataxia. The main laboratory test results of abnormalities consisted of elevated blood urea nitrogen, creatinine, and metabolic acidosis. They had uniform neuroimaging findings of symmetrical bilateral basal ganglion changes. These changes regressed or disappeared during follow-up. The clinical prognoses were diverse. We believe that this group of patients represents a well-demarcated clinical syndrome, which is not uncommon but has previously been rarely addressed. The underlying mechanism of such lesions may be associated with metabolic, as well as vascular factors.     

Beyond the caudate nucleus: Early atypical neuroimaging findings in biotin-thiamine- responsive basal ganglia disease

BackgroundBiotin-thiamine-responsive basal ganglia disease (BTBGD) is a treatable neurometabolic disease caused by variants in SLC19A3. Typical imaging features include symmetrical involvement of the caudate nuclei and putamina.ObjectiveThe study sought to explore classical BTBGD without caudate nucleus involvement, to highlight the importance of recognizing this new pattern early in the disease.MethodsIndividuals with genetically confirmed BTBGD who harbored the same homozygous variant: NM_025243.4 (SLC19A3): c.1264A > G (p.Thr422Ala) and had atypical neuroimaging were recruited.ResultsNine patients with BTBGD had atypical neuroimaging findings on the first MRI scan. The median age at symptom onset was 3 years. All patients presented with classical clinical features of subacute encephalopathy, dystonia, ataxia, and seizures. During the acute crisis, MRI revealed bilateral and symmetric involvement of the putamina in all patients; one showed small caudate nuclei involvement. In addition, the thalami, cerebellum, and brain stem were involved in six patients, seven patients, and three patients, respectively. Treatment included a combination of high doses of thiamine and biotin. One patient died; he did not receive any vitamin supplementation. Two patients who were treated late had severe neurological sequelae, including generalized dystonia and quadriplegia. Six patients treated early had good outcomes with minimal sequelae, including mild dystonia and dysarthria. Two patients showed the classical chronic atrophic and necrotic changes already described.ConclusionThe early atypical neuroimaging pattern of BTBGD described here, particularly the lack of caudate nucleus involvement, should not dissuade the clinician and radiologist from considering a diagnosis of BTBGD.     

Severe generalized dystonia due to postradiotherapy cerebral calcifications

INTRODUCTION: Cerebral calcifications are a cause of secondary dystonia and may be an uncommon complication of radiotherapy. We report a very severe case of generalized dystonia due to postradiotherapy basal ganglia calcifications. CASE REPORT: An 8-year-old girl received 53 grays radiotherapy after surgery for craniopharyngioma. One year later she developed generalized dystonia. Computed tomography showed bilateral basal ganglia calcifications, especially of the lenticular nuclei. Pharmacological treatment with tetrabenazine, clonazepam and trihexiphenydile allowed a very limited improvement of dystonia; the course was complicated by dystonic storms and decompensations resulting from the iatrogenous panhypopituitarism. CONCLUSION: This case illustrates a severe complication of cranial irradiation which should be considered in the indications of this treatment, especially for children.     

Latency of intracranial germ cell tumors and diagnosis delay

Background

Intracranial germ cell tumors (GCTs) frequently take an insidious clinical course before diagnosis. To date, clinical latency has been discussed in the context of germinoma in the suprasellar area and basal ganglia.

Objective

In this study, we classified the clinical latency of intracranial GCTs into three categories and described their characteristics in order to understand the full spectrum of the phenomenon.

Methods

In a cohort of 181 patients with intracranial GCTs, 17 patients had a delayed diagnosis of more than 3 months (90 days) from the initial brain magnetic resonance imaging to the definitive GCT diagnosis. Clinical records and radiological data of the patients were reviewed.

Results

The patients with a delayed diagnosis were categorized into three groups according to their tumor location: suprasellar (nine patients), basal ganglia (six patients), and pineal (two patients). Initial symptomatology corresponded with the tumor location: central diabetes insipidus for the suprasellar group, hemiparesis for the basal ganglia group, and precocious puberty for the pineal group. The overall survival of patients with germinoma and delayed diagnosis was significantly shorter than that of patients who were diagnosed within 3 months (P?=?0.002).

Conclusions

Clinical latency and delayed diagnosis are not restricted to germinomas in the suprasellar area and basal ganglia; they are canonical features of intracranial GCTs including pineal non-germinomatous GCTs. Early detection and proactive diagnosis of these tumors are required because diagnosis delay may negatively influence patient survival.     

Calcification of the basal ganglia: computerized tomography and clinical correlation

During a 1-year period, 4219 consecutive computerized tomograms (CT) were reviewed for basal ganglia calcification; 14 patients with such calcification were identified. Calcifications on CT scan were bilateral in 12 of these cases and unilateral in 2. All bilateral calcifications were symmetric. The globus pallidus was the site of calcification in 13 of the 14 patients. Bilateral dentate nucleus calcification was seen in one patient. Skull radiograms were normal in all but one. Patients had diverse symptoms that were often explained by other findings, suggesting that calcifications may be coincidental and that basal ganglia calcification may not be a nosologic entity. Disturbances of calcium metabolism were not found in these patients, minimizing the pathophysiologic significance of altered calcium metabolism and the need for extensive endocrinologic evaluation. The finding of basal ganglia calcification alone does not justify invasive diagnostic procedures. Extrapyramidal signs may be associated with basal ganglia calcification; parkinsonism associated with basal ganglia calcification differs from idiopathic parkinsonism in being resistant to levodopa therapy.     

基底神经节区生殖细胞瘤的早期诊断及综合治疗

目的 探讨颅内基底神经节区生殖细胞瘤的早期诊断及综合治疗.方法 对25例颅内基底神经节区生殖细胞瘤患者的年龄、性别、发病早期的临床症状、体征、血液中肿瘤标记物的榆查及影像学检查的结果等特点进行分析判断,得出早期诊断的依据并行早期综合治疗.结果 3例开颅手术,1例活榆,病理证实为生殖细胞瘤,21例通过临床特点分析,在生殖细胞瘤早期即明确诊断,末行手术,直接进行化、放疗.患者随访最长7年,最短10个月,平均45个月.1例外院手术大部分切除肿瘤,病理诊断生殖细胞瘤,来我院行化、放疗,6年后肿瘤复发,再次化疗,肿瘤消失,已随访1年未见复发,其余24例随访均未见肿瘤复发.患者经过治疗后,肿瘤虽已消失,但症状、体征并不能完全缓解.结论 通过细致的临床观察,综合分析判断临床特点,基底神经节区生贿细胞瘤是可以做到早期诊断,并通过化、放疗等非手术治疗达到满意的治疗效果.     

丘脑及基底节区生殖细胞瘤

报告５例经手术及病理证实的丘脑或基底节区生殖细胞瘤的临床及影像学特点。其发生率占同期所有颅内生殖细胞瘤的６％。５例均为男性。主要临床症状为偏侧肢体无力，两例检查发现精神异常及性早熟。与松果体区及鞍上区生殖细胞瘤的ＣＴ及ＭＲ表现相比，本组丘脑或基底节区生殖细胞瘤的主要特点在瘤体的大小及密度信号、瘤内出血及相邻结构的变化几方面。     

Second primary brain tumors following cranial irradiation for pediatric solid brain tumors

Purpose

We describe our institution’s experience with seven patients who developed second brain tumors following cranial irradiation.

Methods

The median age at first irradiation was 8 years (range, 3–20 years). Initial diagnoses were two cases of germinoma, one non-germinomatous germ cell tumor (NGGCT), three cases of medulloblastoma, and one pineal gland tumor (pathology undetermined). All patients received craniospinal irradiation followed by local boost and the median dose to the initial tumor area was 54.0 Gy (range, 49.8–60.6 Gy). Four patients (two medulloblastomas, one germinoma, and one NGGCT) received chemotherapy.

Results

Second brain tumors were diagnosed a median of 114 months (range, 64–203) after initial radiation. Pathologic diagnoses were one glioblastoma, two cases of anaplastic astrocytoma, one medulloblastoma, one low-grade glioma, one high-grade glial tumor, and one atypical meningioma. Five patients underwent surgical resection with subsequent radiotherapy. One anaplastic astrocytoma patient received chemotherapy only following stereotactic biopsy. The meningioma patient was alive 32 months after total resection and radiosurgery for subsequent recurrences. Six patients died within 18 months and most deaths were due to disease progression.

Conclusions

Most patients diagnosed with second brain tumors had received high-dose, large-volume radiotherapy with chemotherapy at a young age. Further studies are required to determine the relationship between radiotherapy/chemotherapy and the development of secondary brain tumors.     

Basal Ganglia volumes in patients with Gilles de la Tourette syndrome

BACKGROUND: Despite strong circumstantial evidence that the pathophysiology of Gilles de la Tourette syndrome (TS) involves structural and functional disturbances of the basal ganglia, inconsistent findings from relatively small in vivo TS imaging studies have supported contradictory conclusions concerning the role of abnormal anatomical characteristics of the basal ganglia in the pathophysiology of TS. METHODS: Basal ganglia volumes were measured on high-resolution magnetic resonance images acquired for 154 children and adults with TS and 130 healthy control subjects. Repeated-measures analyses tested hypotheses concerning regional specificity, age effects, and abnormal asymmetries in the basal ganglia of subjects with TS. Subjects with prior neuroleptic exposure had larger basal ganglia volumes and were excluded from further statistical analyses. RESULTS: Caudate nucleus volumes were significantly (P =.008) smaller in children and adults with TS. Lenticular nucleus volumes also were smaller in adults with TS and in children with TS who were diagnosed as having comorbid obsessive-compulsive disorder. Regional anatomical asymmetries did not differ across groups. Regional volumes did not correlate significantly with the severity of tic, obsessive-compulsive disorder, or attention-deficit/hyperactivity disorder symptoms. CONCLUSIONS: Reduced caudate nucleus volumes may be a good candidate marker for a trait abnormality in the structure of the basal ganglia in persons with TS. Smaller lenticular nucleus volumes may be an additional marker for the presence of comorbid obsessive-compulsive disorder and for the persistence of tic symptoms into adulthood. Brain regions other than the basal ganglia may have greater clinical relevance in determining the severity of tic symptoms.     

老年人低血糖脑病的临床及神经影像学特征

目的 探讨老年人低血糖脑病的临床及神经影像学特点.方法 对36例低血糖伴神经系统表现的患者进行病史回顾、临床分析及颅脑CT和MRI检查.结果 36例低血糖患者11例发现颅脑MRI典型的双侧尾状核和豆状核对称性异常信号,而脑CT相应部位未见明显异常,病前27例有感染、发热等诱因,临床表现多种多样.低血糖脑病的发生以老年糖尿病患者口服或注射降糖药者居多.随访6个月,神经影像学无明显好转.结论 低血糖脑病临床表现多不典型,对意识障碍的患者,要注意低血糖反应.颅脑CT对低血糖脑病的诊断价值不大,颅脑MRI对重症患者的诊断具有重要价值.特征性的磁共振表现预示着病情危重,且预后不良.     

Early response to chemotherapy as an indicator for the management of germinoma-like tumors of the pineal and/or suprasellar regions

Recent advances in diagnostic imaging and experience with germinomas may allow for the differentiation of central nervous system germinomas from other tumors based on clinical information, without histological verification. We retrospectively analyzed clinically diagnosed germinoma-like tumors of the pineal and/or suprasellar regions. This was done to evaluate the efficacy of our strategy of defining germinoma-compatible tumors based on good responses to initial chemotherapy. The responses to chemotherapy and survival of 34 consecutive patients with germinoma-like tumors who underwent initial treatment from July 2001 to October 2010 were analyzed. The minimum apparent diffusion coefficient (minADC) value and proton magnetic resonance spectroscopy (MRS) were evaluated in recent patients. Twelve patients with histologically verified germinomas and 18 with germinoma-compatible tumors showed early logarithmic decreases in tumor volume in response to initial chemotherapy, typical low minADC values and typical MRS characteristics, including increased choline/creatine ratios, decreased N-acetylasparate/creatine ratios, and large lipid peaks. These patients had good progression-free survival. The other four patients, with histologically verified non-germinomas, showed no response to chemotherapy, and one patient with a pineoblastoma showed a similar minADC value and MRS characteristics to those of patients with germinomas. The response to initial chemotherapy can be used to distinguish germinoma-compatible tumors from non-germinoma in patients with germinoma-like tumors of the pineal and/or suprasellar regions. The evaluation of minADC and proton MRS are useful for distinguishing germinomas from other tumors. However, a subset of non-germinomas may show similar characteristics to germinomas. The benefit of bypassing unnecessary surgical intervention can be achieved, at least in Asian populations with a high incidence of germinomas.     

Primary pontomedullary germinoma in a 12 year old boy

Primary intracranial germinomas are rare tumors, accounting for approximately 1–4% of all intracranial tumors. Intracranial germinomas are more commonly found in the suprasellar and pineal midline structures of the brain. Brainstem and posterior fossa germinomas are rarer still, with few reported cases in the literature, and little discussion of their presentation, management and clinical outcome. A unique case of pontomedullary germinoma, diagnosed in a 12-year-old boy, is described. Only six previous cases of lower brainstem germinoma have been reported, with varying modes of presentation and a lack of definitive management guidelines. Of these, all occurred in either females or a patient with Klinefelter’s syndrome. We report the first case of a lower brainstem germinoma in a male without known genetic abnormality. Tumor remission was achieved with partial surgical resection, chemotherapy and radiotherapy.     

Parkinson's disease and basal ganglia calcifications: prevalence and clinico-radiological correlations.

We reviewed computerized tomograms (CT) for basal ganglia and dentate nucleus calcifications in 79 patients with Parkinson's disease (PD), 54 patients with Alzheimer's disease (AD) and 109 controls aged 50 or more. When it was determined, no patient had disturbances in calcium metabolism. We found: (1) 30 subjects out of 242 (12.3%) with calcification located within the lenticular nucleus in 28. (2) Calcifications were unilateral in 11 and asymmetric in 11. (3) The prevalence of calcifications was 21.5% in PD, 9.2% in AD and 7.3% in controls and were significantly more severe in PD than in C and AD (P less than 0.02). (4) PD patients with calcifications were clinically indistinguishable from those without calcification. (5) Calcifications within the basal ganglia were not associated with a levodopa-resistance. We suggest the basal ganglia calcifications are more frequent in PD, but we cannot explain why, since post-synaptic lesions have never been showed in PD.     

原发灶来源不明的脑转移瘤的临床特点及治疗

目的 探讨原发灶来源不明的脑转移瘤（BMUP）的临床特点及治疗方法。方法 回顾性分析26例BMUP患者的临床资料。结果 病灶位于额叶8例、顶叶13例、枕叶1例、小脑3例、基底节区1例。19例单发转移灶全切除,7例多发灶者行症状侧病灶全切除术。术后均接受普通放疗,其中3例多发转移瘤加行替莫唑胺辅助化疗。术后随访6~78个月,平均28个月;复发7例（单发灶2例,多发灶5例）,再次手术治疗2例,化疗3例,2例因颅内播散、恶性颅内压增高死亡。结论 BMUP影像学及病理学具有一定特征,治疗主要采取以手术为主的综合治疗,术后常规放化治疗可延缓肿瘤生长,提高患者生存率。     

CNS germinomas: what is the best treatment strategy?

CNS germ cell tumors are rare primary brain malignancies. Germinomas comprise approximately two-thirds of CNS germ cell tumors. Owing to their radiosensitivity, radiotherapy has been used to treat patients with CNS germinomas, with favorable treatment outcomes. Historically, craniospinal irradiation has been used. Given the concerns over long-term toxicities associated with craniospinal irradiation, reduced volume radiotherapy with or without chemotherapy has been employed. Data on the use of different strategies in the treatment of CNS germinomas are emerging but a standard strategy has not been established. This article reviews the different strategies used in the management of CNS germinomas.