Rasmussen脑炎一例临床病理分析

目的探讨Rasmussen脑炎的发病机制、临床特征、影像学特点、病理学特点及治疗方案。方法对1例Rasmussen脑炎的临床表现、影像学、组织形态学和免疫表型进行分析。结果临床、MRI图像及病理组织学特征均符合Rasmussen脑炎的诊断。结论 Rasmussen脑炎是一种罕见的可引起难治性癫疒间、偏瘫及神经功能损害的慢性进行性炎症,尽早行大脑半球切除术是目前治疗该病的最有效方法。     

Finding on brain MRI mimicking focal cortical dysplasia in early Rasmussen's encephalitis: a case report and review

Introduction  

Rasmussen's encephalitis (RE) is one of the important causes of refractory seizure. The most impressive clinical manifestation of RE is epilepsia partialis continua (EPC). Others include progressive hemiparesis and neuropsychological deterioration. Currently, the best approach to RE is hemispherectomy.     

Extrarolandic electroclinical findings in the evolution of adult-onset Rasmussen's encephalitis

Rasmussen's encephalitis (RE) is a rare immunomediated disorder characterized by unilateral hemispheric atrophy, drug-resistant focal epilepsy, and progressive neurological deficits. Its onset typically occurs in childhood, though it has also been reported in adult age (A-RE) with atypical clinical features. The aim of this study was to describe the electroclinical features in a group of seven patients with A-RE.We retrospectively studied seven women aged 23–43 years (mean: 32.1 years) with a diagnosis of RE according to commonly accepted diagnostic criteria. All the patients were clinically evaluated and underwent prolonged video-EEG monitoring, laboratory investigations, and high-resolution MRI follow-up.All the patients displayed an ictal electroclinical pattern whose evolution varied. We identified an early phase characterized by polymorphic ictal electroclinical manifestations (temporal semiology in five cases, frontal in one, and parietal in the remaining case) and a late phase clinically characterized by viscerosensitive phenomena followed by somatosensitive signs, experiential symptoms, and motor signs in all the cases. In the late phase, the ictal EEG pattern was characterized by monomorphic, pseudorhythmic, repetitive slow-wave theta activity over the frontal and central regions, with ipsilateral propagation and/or secondary spreading to contralateral perisylvian structures. Patients were treated with a combination of AEDs and immunotherapy (steroids and IVIg); epilepsy surgery was performed in 3 cases.Our results show that A-RE is characterized by early and late clinical- and EEG-different features which may reflect a progressive involvement of a specific “extrarolandic” network in the advanced phase of the disease and may suggest that the electroclinical expression of RE varies according to the different stages of the pathological process.     

Rasmussen's encephalitis: Experience from a developing country based on a group of medically and surgically treated patients

PurposeTo describe the attributes of patients with Rasmussen's encephalitis (RE) seen in a tertiary epilepsy referral center in southern India and to enquire factors helpful in predicting responsiveness to immunotherapy.MethodsWe diagnosed RE based on the European consensus criteria. To assess the factors that could potentially predict the natural course and therapeutic outcome, we subcategorized our patients according to age at onset ( 6 years), duration from onset to presentation ( 2 years), immunotherapy versus surgery, and early (≤2 years from the onset) versus late surgery.ResultsThe median age at disease onset of 19 patients was 6.0 years (range 2.3–13 years). Epilepsia partialis continua (EPC) and hemiparesis were noted in 14 (73.6%) and 16 (84.2%) patients, respectively. One patient, who presented with dysarthria due to tongue EPC, did not have hemiparesis despite having had the disease for over 15 years. The MRI findings in majority conformed to stage 3 of Bien classification. While 9/10 patients treated by surgery achieved seizure-freedom, only 1/11 patients who received immunotherapy did so. One patient expired due to subsequent development of contralateral hemispheric disease following successful hemispherectomy. None of the factors such as age at onset, age at presentation, presence/absence of antecedents, seizure burden, MRI stage predicted responsiveness to immunotherapy.ConclusionThis study from a developing country, in addition to substantiating the well known characteristics of RE, noted the following unusual findings: isolated lingual EPC abolished by focal cortical resection, bilateral RE, putaminal atrophy and absence of hemiparesis despite long standing disease.     

Rasmussen encephalitis with active inflammation and delayed seizures onset

Severe focal epilepsy is regarded as a clinical hallmark of Rasmussen encephalitis (RE). The authors report two children with progressive hemiparesis, contralateral hemispheric atrophy, and pathologic features characteristic for RE. At histologic diagnosis and over several months, neither patient experienced seizures. The report enlarges the clinical spectrum of RE and suggests that seizures are not an obligatory presenting symptom of the disorder.     

Absence of seizures in Rasmussen encephalitis with active inflammation

Severe focal motor epilepsy is considered a clinical hallmark of Rasmussen encephalitis (RE). The authors report a 6-year-old girl with progressive right sided hemiparesis, loss of language skills, left sided hemispheric atrophy, and brain pathologic features characteristic for RE. The patient did not experience seizures over a 2 year period after symptom onset and for several months during follow-up. This report expands the clinical spectrum of RE and suggests that seizures are not a universal symptom of RE. Our patient’s quite remarkable neurologic deficits along with active inflammation in the absence of epilepsy supports that, at least in some individuals, unilateral hemispheric progressive inflammation can occur without active seizure activity.     

Difficulties in differentiation of Parry–Romberg syndrome, unilateral facial sclerodermia, and Rasmussen syndrome

Introduction Parry–Romberg syndrome (progressive facial hemiatrophy) is a unilateral, slowly progressive atrophy affecting the skin, subcutaneous tissues, muscles, and bones. The relationship between Parry–Romberg syndrome and connective tissue disorders, especially scleroderma en coup de sabre, is still unclear. The neurological symptoms, including epilepsy, migraine, and brain lesion, on neuroimaging may be similar. Rasmussen encephalitis (RE) is connected with chronic inflammation and damage of one hemisphere. Clinically, it is manifested by epileptic partial seizures and unilateral neurological symptoms.Case Report The authors present the case of a 10-year-old girl with features suggestive of RE, with refractory partial motor dextrolateral seizures followed by development of hemiparesis and with progressive intellectual deterioration. At the age of 2 years, some changes on the left part of the face typical of Parry–Romberg syndrome or a linear form of scleroderma were noticed.Discussion The authors discussed the difficulties in differential diagnosis in that patient. The presented girl constitute the case from the borderline zone of the aforementioned disorders.     

Rasmussen encephalitis: long-term outcome after surgery

Background and purpose

Rasmussen encephalitis (RE) is characterized by intractable epilepsy, progressive hemiparesis, and unilateral hemispheric atrophy. The progression of the symptoms to significant neurological impairment usually occurs within months to a few years. RE causes are unknown, although evidence of an autoimmune process has been extensively described in the literature. Antiepileptic drugs are usually not effective to control seizures or cerebral atrophy; despite data supporting a beneficial effect of early immunosuppressive and immunomodulatory interventions, for intractable seizures in RE patients with advanced disease, epilepsy surgery in the form of hemispheric disconnection has been considered the treatment of choice. This work describes the clinical and electrographic analyses, as well as the post-operative evolution of patients with RE.

Materials and methods

This work includes all the patients with RE evaluated from January 1995 to January 2008 by the Ribeirão Preto Epilepsy Surgery Program (CIREP), taking variables such as gender; age at epilepsy onset; seizure semiology; seizure frequency; interictal and ictal electroencephalographic (EEG) findings; age at surgery, when done; duration of epilepsy; surgery complications; follow-up duration; anatomo-pathological findings; post-surgery seizure; language and cognitive outcome; and anti-epileptic drug treatment after surgery into account.

Results

Twenty-five patients were evaluated; thirteen were female. Mean age of epilepsy onset was 4.4?±?2.0 years. There were no differences between patients with slow and fast evolution with respect to age of epilepsy onset (p?=?0.79), age at surgery (p?=?0.24), duration of epilepsy (0.06), and follow-up (p?=?0.40). There were no correlations between the presence of bilateral EEG abnormalities or the absence of spikes and post-operative seizure outcome (p?=?0.06). Immunomodulatory therapy was tried in 12 patients (48%). Twenty-three patients underwent surgery. The mean follow-up was 63.3 months. Eleven patients had total seizure control. Twelve individuals persisted with seizures consisting of mild facial jerks (six patients), occasional hemigeneralized tonic–clonic seizures (three patients), and frequent tonic–clonic seizures (three patients). Mental and language impairment was observed in 15 and 12 patients, after surgery, respectively. Eight patients presented post-operative cognitive decline, while only two patients had cognitive improvement. Comparing pre- and post-operative language deficits, 66.7% of the 12 patients with language disturbance did not improve after surgery.

Conclusions

This retrospective study reported the clinical and electrographic analysis, as well as the evolution of 23 patients with RE. Patients were divided into two groups: fast evolution and slow evolution to hemiparesis and epilepsia partialis continua. These groups may represent different RE substrates. Fourteen patients achieved satisfactory seizure control, three patients had partial response to surgery, and five patients had maintenance of the pre-operative condition. All patients with left-side involvement presented with some language disturbance, which did not improve after surgery in 66.6% of patients. Cognitive evaluation showed that the majority of the patients did not have any significant improvement, and 38.1% had cognitive deterioration after surgery.     

Calcified cerebral hydatid cyst. Report of a case

The cerebral localization of the hydatid cyst is still rare (1 to 4% of the cases). The calcified cerebral hydatid cyst is exceptional. We report one case collected in our department. It is about a patient of 28 years old, that the case histories consist in convulsive attacks since the age of 8 years old, hospitalized because of a left hemiparesis with progressive installation. The cerebral computerized tomography showed a right parieto-occipital that is largely calcified. During the operation, a calcified hydatid cyst discovered with various daughter vesicles and a cerebral gliosis, the latter has been extracted entirely. The evolution has been favourable with improvement of the left hemiparesis. The calcified hydatid cyst of brain is still exceptional, its symptomatology is the same as the safe CHC, but it poses some diagnostic and therapeutic problems.     

Positive response to immunomodulatory therapy in an adult patient with Rasmussen's encephalitis

Rasmussen's encephalitis (RE) is a rare and progressive neurologic condition of uncertain etiology that typically has a childhood onset. The authors describe a 45-year-old woman with adult-onset progressive aphasia, right hemiparesis, severe drug refractory epilepsy, and left cerebral hemisphere atrophy. High-dose corticosteroids and plasmapheresis were not effective. She improved with high-dose therapy with human IV immunoglobulin.     

A case of late onset leukoencephalopathy with cerebral calcifications and cysts in a 59-year-old woman

Background:  Leukoencephalopathy with cerebral calcifications and cysts (LCC) is a recently described, very rare entity, clinically characterized by progressive neurological deficits such as cognitive decline, epileptic seizures, pyramidal, extrapyramidal and cerebellar symptoms/signs. With the exception of two patients with adult onset, in all previously described cases symptoms onset occurred between early infancy and adolescence.
Results:  We report a case of late onset LCC in a 59-year-old woman presenting with urinary and fecal incontinence and behavioural changes, then rapid progression with hemianopia, hemiparesis, ataxia and cognitive decline. Extensive work-up was performed, including brain magnetic resonance imaging, magnetic resonance spectroscopy, cyst fluid analysis and brain biopsy, confirming the final diagnosis of LCC.
Conclusion:  Our case supports the existence of a late onset adult form of LCC.     

Rasmussen encephalitis: Incidence and course under randomized therapy with tacrolimus or intravenous immunoglobulins

Purpose: Rasmussen encephalitis (RE) leads to progressive tissue and function loss of one brain hemisphere and often intractable epilepsy. This is the first randomized prospective treatment trial in RE. Methods: Germany‐wide, patients with suspected recent‐onset RE were recruited and if eligible randomized to tacrolimus or intravenous immunoglobulins (IVIGs). A loss of motor function or hemispheric volume by ≥15% (in patients >12 years at disease onset: ≥8%) led to study exit. Untreated patients served as a historical control group. Key Findings: Over 6.3 years, 21 patients with recent‐onset RE were identified. Sixteen were randomized to tacrolimus (n = 9) or IVIG (n = 7). Immunotreated patients had a longer “survival” than the historical controls. Neither treatment was more efficacious than the other. Two tacrolimus patients experienced serious adverse events. No immunotreated but several untreated patients developed intractable epilepsy. No patient with refractory epilepsy became treatment‐responsive under immunotherapy. Significance: The countrywide incidence rate of diagnosed RE is estimated as 2.4 cases/10⁷ people ≤ age 18/year. Treatment with tacrolimus or IVIG may slow down tissue and function loss and prevent development of intractable epilepsy. However, immunotherapy may “arrest” patients in a dilemma state of pharmacoresistant epilepsy but too good function to be offered functional hemispherectomy. These compounds may therefore contribute to the therapeutic armamentarium for RE patients without difficult‐to‐treat epilepsies.     

Rasmussen’s encephalitis: advances in management and patient outcomes

Purpose

Rasmussen’s encephalitis (RE) is a hemispheric inflammatory disorder resulting in progressive epilepsy, hemiparesis, and cognitive decline. Controversy surrounds the most effective timing of surgery with respect to language dominance, functional status, and seizure outcome. We describe our experience with RE to inform treatment decisions.

Methods

A retrospective chart review was performed in children diagnosed with RE from 1983 to 2012.

Results

Thirteen consecutive cases were identified: six males and seven females with a mean age of 10.6 years (range 5–18). Nine patients received immunotherapy, with transient benefit in three, treatment-associated complications in two, and no difference in their mean time to treatment (5.38 vs 6.37 years p?=?0.74) or long-term outcome. Mean follow-up was 5.6 years (range 0.58–12.25). There was no difference in outcome based on pre-operative duration of seizures. At last follow-up, 63 % of surgically treated patients achieved seizure freedom, 100 % had improved seizure control, 90 % had improved cognitive function, 36 % stopped medication, and 63 % tapered medication. Language improved in 83 % of patients with dominant disease. These findings were not associated with age at treatment. All surgical patients were ambulatory at last follow-up.

Conclusions

Hemispherotomy achieves good seizure control with cognitive improvement and ambulatory status post-operatively. Time to surgery and dominant disease were not associated with outcome, suggesting that hemispherotomy can be offered early or late, with expectations of good seizure control and functional outcome, even with dominant disease.

     

Comparative Evaluation of Concomitant Structural and Functional Neuroimages in Rasmussen''s Encephalitis

BACKGROUND AND PURPOSE: Rasmussen's encephalitis (RE) is a rare condition of unknown cause characterized by intractable seizures, progressive hemiparesis, mental impairment, and inflammatory histological findings in the cortex. The primary diagnosis is based on biopsy to confirm the typical clinical, electroencephalography, and brain imaging findings. The main objective of this study was to compare simultaneous structural and functional neuroimages in RE. METHODS: Concomitant magnetic resonance imaging and 2-deoxy-2-[18F]-fluoro-D-glucose positron emission tomography data from the authors' series of 5 children and 8 patients described in the literature were analyzed and compared. RESULTS: Typical early findings of RE include metabolic abnormalities (hypermetabolism and hypometabolism) starting in the frontal or temporal regions or, occasionally, involving the whole hemisphere. Focal abnormalities of cerebral glucose metabolism indicate lesions sooner and depict their extent better than concomitant magnetic resonance images. The major structural abnormality remains unilateral; however, contralateral frontal lobe hypometabolism or crossed cerebellar diaschisis can be a finding of this disease. Basal ganglia involvement and whole hemispheric metabolic abnormality appear typically only after several months of disease onset. CONCLUSION: Concomitant structural and functional neuroimaging provide possibly complementary information in the early noninvasive workup of RE and may facilitate the early diagnosis of this rare disorder.     

Long term response to steroid therapy in Rasmussen encephalitis.

Rasmussen encephalitis (RE) is a severe and progressive focal epilepsy of unknown origin that leads to deterioration of motor and cognitive function. In a previous study, we described positive effect of high doses of steroids during the first year after the onset of RE. The objective of this study was to evaluate this therapy at long term. We reviewed 11 patients (7 girls and 4 boys) with RE of the right hemisphere (7) and the left (4) at a follow-up of 9+/-2 years. Age at onset of RE ranged from 2 to 14 years. Six patients had no benefit from steroid therapy and underwent hemispherotomy. Five had significant reduction of seizure frequency with disappearance of epilepsia partialis continua, and improved motor function. Of these, two died of unexpected sudden death 5 and 7 years after seizure control. Two others with initial response experienced progressive recurrence of seizures 1 to 4 years after the end of steroid therapy and required hemispherotomy. Finally, only one patient exhibited total cessation of seizures with steroids for 3 years, but seizures progressively recurred although the frequency was moderate. Our data confirm that although steroid treatment can be useful when given early in the course of RE, long term relapse can occur among the good responders requiring delayed hemispheric disconnection.     

Nationwide survey (incidence,clinical course,prognosis) of Rasmussen’s encephalitis

Purpose: Rasmussen’s encephalitis (RE) is a progressive and catastrophic epileptic disorder caused by chronic localized encephalitis. We performed a nationwide survey of RE to assess the clinical picture, treatment effect, and prognosis of Japanese RE patients. Subjects & methods: The subjects were 27 patients (male:12; female:15) from 13 medical facilities. All of them satisfied the clinical and neuroimaging criteria for RE, including 14 pathologically proven cases. Results: They were divided into the childhood-onset rapidly progressive type (CORP, n = 19), and late-onset slowly progressive type (LOSP, n = 8). The mean age at epilepsy onset was 4 years and 4 months in CORP, and 16 years in LOSP. The mean period between the onset age of epilepsy and development of frequent seizures was 1 year and 4 months in the former, and 3 years and 4 months in the latter. The immunomodulatory treatment including high-dose steroid (n = 14) and high-dose intravenous immunoglobulin therapies (IVIgG, n = 12) achieved more than a 50% reduction in the seizure frequency in 5 (36%) and 4 (33%) patients, respectively. Eight and seven patients underwent focal cortical resection and functional hemispherectomy, leading to significant improvement in 5 of the 8 patients and excellent seizure control in all 7 patients, respectively. Conclusion: Although the high-dose steroid and IVIG therapies may have alleviated the exacerbation of seizures in those with RE, they could not halt the disease progression. Functional hemispherectomy is still the only curative therapy for RE, despite the fact that the early introduction of this procedure remains controversial.     

Haemorrhagic pure motor stroke

To describe the clinical characteristics of haemorrhagic pure motor stroke (PMS). Twelve patients with haemorrhagic PMS were identified. Haemorrhagic PMS accounted for 3.2% of all cases of pure motor hemiparesis ( n  = 380) and 3.3% of intracerebral haemorrhage ( n  = 364) entered in the database. When compared with PMS of ischaemic origin, patients with haemorrhagic PMS were more likely to be younger (62.2 vs. 75.2 years, P  = 0.003) and to have headache (33% vs. 6.3%, P  =0.007) and thalamus involvement (25% vs. 2.4%, P  = 0.005). Limb weakness (100% vs. 74.1%; P  = 0.03), involvement of the internal capsule (50% vs. 17.3%, P  = 0.012) and symptom free at discharge (25% vs. 3.7%, P  = 0.012) were significantly more frequent in patients with haemorrhagic PMS than in the remaining cases of haemorrhagic stroke, whereas nausea and vomiting (0% vs. 25.9%, P  = 0.03), altered consciousness (0% vs. 42.9%, P  = 0.001), sensory symptoms (8.3% vs. 46.9%, P  =0.007) and ventricular haemorrhage (0% vs. 26.1%, P  = 0.028) were significantly less frequent. Haemorrhagic PMS is a very infrequent stroke subtype. Headache at stroke onset may be useful sign for distinguishing haemorrhagic PMS from other causes of lacunar stroke. There are important differences between haemorrhagic PMS and the remaining intracerebral haemorrhages.     

Kernohan's notch phenomenon in chronic subdural hematoma: MRI findings.

We report two cases of Kernohan's notch phenomenon secondary to chronic subdural hematoma detected by MRI. In the first case, the patient was drowsy with an oculomotor palsy and a hemiparesis ipsilateral to the chronic subdural hematoma. MRI in the post-operative period showed no abnormal signal or deformity of the crus cerebri. The neurological signs immediately resolved after trephination. In the second case, the patient was admitted with progressive decrease in their level of consciousness and ipsilateral hemiparesis with the chronic subdural hematoma. MRI on admission revealed an abnormal signal in the contralateral crus cerebri against the chronic subdural hematoma. After surgery, the mental state gradually recovered to normal with some degree of residual hemiparesis. In patients with chronic subdural hematoma, a compressive deformity of the crus cerebri, without abnormal signal on MRI, may predict a better neurological recovery in patients with Kernohan's notch phenomenon.     

Spontaneous cerebrospinal fluid hypovolaemia: a therapeutic dilemma?

Spontaneous intracranial hypotension is characterized by orthostatic headaches in conjunction with reduced cerebrospinal fluid volume(CSF) and characteristic imaging findings. We report the clinical course of six consecutive patients with spontaneous intracranial hypotension who were followed between 4 months and 2.5 years. The characteristic orthostatic headaches were present in five patients. Diffuse pachymeningeal enhancement on brain magnetic resonance imaging (MRI) was evident in all cases. CSF detected elevated protein content in three of six patients. In only two of our six patients a first epidural blood patch resulted in complete symptom resolution lasting 4 months and 1 year. Four patients received a second epidural blood patch and one patient also received a third. In four patients, follow-up brain MRI revealed re-occurrence of the typical MRI features and all of them suffered from orthostatic symptoms at this time. Only four patients are free of complaints after an average follow-up period of 10 months. Symptom relief within 7 days from an epidural blood patch is accepted to be diagnostic for spontaneous intracranial hypotension. However, our data illustrate that the clinical course of the syndrome is very unstable and the epidural blood patch is less effective than widely accepted.