可逆性后部白质脑病综合征的临床及影像学特点

目的探讨可逆性后部白质脑病综合征(RPLS)的临床及影像学特点。方法回顾性分析16例RPLS患者的临床资料。结果患者均为急性起病,其中继发于高血压脑病7例,妊娠子痫9例。患者均出现血压明显升高,其中出现头痛9例,意识障碍9例,癫痫发作13例,视力模糊6例。16例患者MRI均表现为双侧枕叶和/或额、颞、顶叶对称或不对称的T1低信号,T2高信号;其中累及顶叶13例(81.3%),枕叶12例(75.0%),额叶9例(56.3%),颞叶5例(31.3%),小脑4例(25.0%)。弥散加权成像(DWI)显示等/低信号14例,异常高信号2例。所有患者经对症治疗均痊愈。结论 RPLS以血压升高、头痛、视觉异常、意识障碍、癫痫发作为主要临床表现。MRI表现双侧枕叶和/或额、颞、顶叶对称或不对称的T1低信号,T2高信号,经治疗预后良好。     

表现为可逆性后部白质脑病综合征的急性间歇性卟啉病(附1例报告)

目的探讨表现为可逆性白质脑病综合征(RPLS)的急性间歇性卟啉病(AIP)的临床特点。方法回顾性分析1例表现为RPLS的AIP患者的临床资料。结果本例患者为青年女性,临床表现为腹痛、癫痫发作、精神症状、植物神经受累表现,检查发现低钠、低氯血症,尿卟啉定性阳性;头颅MRI示两侧额叶后部、顶叶、颞叶皮质和两侧小脑半球弥漫对称性片状异常信号,T1WI为等或低信号,T2WI及Flair序列呈高信号。经高糖、三磷酸腺苷以及纠正电解质紊乱等治疗后症状改善。复查头颅MRI示病变基本消失。结论AIP是RPLS的罕见原因之一。表现为RPLS的AIP可有腹痛和神经精神症状等,尿检和影像学检查对诊断有帮助。     

可逆性后部白质脑病综合征的临床和影像学特征(附2例报告)

目的探讨可逆性后部白质脑病综合征(RPLS)的临床及影像学特点。方法回顾性分析2例RPLS患者的临床资料。结果 2例均为急性起病,例1为产后2 d出现持续高血压,以癫疒间发作、意识障碍为主要症状;例2遭雷击后出现以声音嘶哑、共济失调为主要症状。颅脑MRI检查急性期均显示以大脑后部为主的异常信号,恢复期异常信号可明显减少或消失。结论 RPLS临床表现为脑病的症状,急性期MRI的脑白质异常是可逆的。     

38例可逆性后部白质脑病综合征的临床影像学特征及病因学分析

目的探讨可逆性后部白质脑病综合征(RPLS)的临床影像学特点以及病因学。方法回顾性分析2009年至2014年间在中南大学湘雅医院神经内科就诊的38例病人临床资料、影像学资料及治疗过程。结果 38例患者中女性23例,男性15例;高血压病史31例,有子痫或子痫前期病史6例;服用免疫抑制剂5例,肿瘤化疗史3例。30例(78.9%)患者首发表现为头痛头晕,此外血压增高、恶心呕吐、视力下降、痫性发作和意识障碍为主要临床表现。磁共振影像表现为大脑后半部对称性稍长T1、长T2信号,FLAIR序列为高信号,DWI低信号,并可发现皮质受累。结论 RPLS是一类预后良好的脑病综合征,病因复杂,目前主要依靠临床表现以及影像学明确诊断。     

An autopsy case of Fabry disease with neuropathological investigation of the pathogenesis of associated dementia

The pathogenesis of dementia associated with Fabry disease was examined neuropathologically in an autopsy case. The patient was a 47‐year‐old computer programmer who developed renal failure at the age of 36, necessitating peritoneal dialysis, and thereafter suffered in succession episodic pulmonary congestion, bradyacusia, heart failure, and dementia, before dying of acute myocardial infarction. MRI of the brain demonstrated leuko‐araiosis. The CNS parenchyma showed widespread segmental hydropic swelling of axons in the bilateral cerebral and cerebellar deep white matter in addition to neuronal ballooning due to glycolipid storage in a few restricted nuclei and multiple tiny lacunae. Hydropic axonal swelling was also sparsely distributed in the pyramidal tract, pedunculus cerebellaris superior and brachium colliculi inferioris, but wallerian degeneration of these tracts was absent. Additional features included angiopathy of the subarachnoidal arteries due to Fabry disease, such as medial thickening resulting from glycolipid deposition in smooth muscle cells (SMCs) and adventitial fibrosis with lymphocytic infiltration, together with widespread subtotal or total replacement of medial SMCs by fibrosis, associated with prominent intimal fibrous thickening and undulation of the internal elastic membrane of medium‐sized (1000–100 μm diameter) arteries. The findings in this case suggest that axonopathic leukoencephalopathy due to multisegmental hydropic swelling of axons in the bilateral cerebral deep white matter is responsible for the dementia associated with Fabry disease, and may be caused by ischemia resulting from widespread narrowing and stiffening of medium‐sized subarachnoidal arteries and progressive heart failure.     

妊娠相关性脑静脉及静脉窦血栓形成和可逆性后部白质脑病的磁共振鉴别

目的探讨MRI和MRV在妊娠相关性脑静脉及静脉窦血栓形成(CVST)和可逆性后部白质脑病综合征(RPLS)鉴别诊断中的价值。方法回顾性分析3例妊娠相关性CVST和6例重度子痫前期、子痫发生RPLS患者的影像学资料。所有患者均行MRI和DSA检查,其中7例患者行MRV检查。结果 3例CVST患者中,1例孤立性大脑上静脉前组血栓形成,MRI表现为相应部位T1WI低、等信号,T2WI、FLAIR等、稍高信号,DWI为等、高信号,ADC图为低、稍高信号;2例横窦血栓形成,表现为双侧枕叶皮质、皮质下白质片状T1WI低信号,T2WI、FLAIR高信号,DWI、ADC高信号,可不对称性地累及顶叶、小脑半球,MRV与DSA检查结果相符。6例RPLS患者MRI显示双侧顶、枕叶皮质、皮质下白质多发性、斑片状、对称性病变,部分严重患者大脑半球呈弥漫性、大片状受累,表现为T1WI低信号,T2WI、FLAIR高信号,DWI、ADC高信号;1例患者MRV检查示左侧横窦未显影,DSA检查示左侧横窦通畅。结论横窦血栓形成和RPLS患者MRI均显示血管源性脑水肿,两者脑水肿主要发生于双侧枕、顶叶,但前者范围较局限,后者范围更广泛,可累及基底节、额叶、颞叶。RPLS患者MRV检查可有假阳性,DSA是鉴别两者的重要检查方法。     

酷似中毒性脑病的可逆性后部白质脑病综合征:6例临床分析

目的探讨可逆性后部白质脑病综合征(RPLS)的临床及影像学特点,为与中毒性脑病进行鉴别提供依据。方法回顾性分析6例RPLS患者的临床特点、影像学资料及治疗经过。结果 6例患者分别有大量饮酒史、海洛因吸食史、煤气中毒史、长期接触油漆涂料史、一氧化碳吸入史和有机溶剂接触史。临床主要表现为头痛、恶心、呕吐、癫痫发作以及血压升高。头部MRI主要表现为双侧颞叶、顶叶、额叶、侧脑室旁白质、小脑、脑干病灶,呈长T1、长T2信号,无强化。6例患者对症及去除病因治疗后临床表现及影像学表现均明显好转。结论 RPLS患者可以出现与中毒性脑病相似的临床及影像学特点,特别是当患者有毒物吸入史时,应根据该病相对特征性的临床、影像学及疗效尽早排除。     

以可逆性皮层盲为主要表现的可逆性后部白质脑病综合征三例临床和影像学分析

目的探讨主要表现为皮层盲的可逆性后部白质脑病综合征的临床与影像学表现、早期诊断和治疗。方法回顾性分析主要表现为可逆性皮层盲的慢性肾功能衰竭患者1例、先兆子痫和子痫患者各1例的临床、腰椎穿刺和影像学资料。结果3例患者均出现急性双侧完全性皮层盲,伴有高血压、头痛,1例伴有癫痫发作。腰椎穿刺示轻度颅内压增高。头颅MRI示双侧枕叶皮层或皮层下对称性异常信号,T2WI、FLAIR为高信号,DWI为低或等信号,ADC为高信号,提示血管源性水肿。3例患者均诊断为可逆性后部白质脑病综合征,经控制血压、脱水降颅压等治疗,皮层盲在2天内均完全好转,2周后复查头MRI病灶完全消失。结论可逆性皮层盲是可逆性后部白质脑病综合征最为特征性的症状之一,是由于双侧枕叶皮层或皮层下血管源性水肿所致。     

Diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation

Background and purpose

To establish and validate diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to colony‐stimulating factor 1 receptor (CSF1R) mutation.

Methods

We developed diagnostic criteria for ALSP based on a recent analysis of the clinical characteristics of ALSP. These criteria provide ‘probable’ and ‘possible’ designations for patients who do not have a genetic diagnosis. To verify its sensitivity and specificity, we retrospectively applied our criteria to 83 ALSP cases who had CSF1R mutations (24 of these were analyzed at our institutions and the others were identified from the literature), 53 cases who had CSF1R mutation‐negative leukoencephalopathies and 32 cases who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with NOTCH3 mutations.

Results

Among the CSF1R mutation‐positive cases, 50 cases (60%) were diagnosed as ‘probable’ and 32 (39%) were diagnosed as ‘possible,’ leading to a sensitivity of 99% if calculated as a ratio of the combined number of cases who fulfilled ‘probable’ or ‘possible’ to the total number of cases. With regard to specificity, 22 cases (42%) with mutation‐negative leukoencephalopathies and 28 (88%) with CADASIL were correctly excluded using these criteria.

Conclusions

These diagnostic criteria are very sensitive for diagnosing ALSP with sufficient specificity for differentiation from CADASIL and moderate specificity for other leukoencephalopathies. Our results suggest that these criteria are useful for the clinical diagnosis of ALSP.     

An autopsy case of hemiconvulsion‐hemiplegia‐epilepsy syndrome manifesting as cerebral hemiatrophy in an elderly man

We report an autopsy case of hemiconvulsion‐hemiplegia‐epilepsy (HHE) syndrome in a 79‐year‐old man. HHE syndrome usually occurs in children younger than 4 years of age. Although most HHE syndrome patients live into adult life, only a few cases of the syndrome have been reported in the elderly. In our case, cerebral hemiatrophy, left mesial temporal sclerosis and crossed cerebellar atrophy were observed. Because this is the oldest case ever reported, we further investigated age‐related neuropathological changes and found an interhemispheric difference in amyloid‐β‐related neuropathologic changes. There were almost no senile plaques or amyloid‐laden vessels in the left hemisphere. As far as we know, this is the first report of age‐related neuropathology in a brain manifesting HHE syndrome.     

Clinical and radiological differences in posterior reversible encephalopathy syndrome between patients with preeclampsia‐eclampsia and other predisposing diseases

Background: Posterior reversible encephalopathy syndrome (PRES) is a serious maternal complication in pregnancy, but data on the clinicoradiological differences to other etiologies of PRES are scarce. In this study, we aimed to investigate the clinical and imaging characteristics of PRES in preeclampsia‐eclampsia patients compared with other predisposing diseases in a large cohort. Methods: We retrospectively reviewed the radiological report data bases between January 1999 and August 2010 for patients with PRES. Patients fulfilling the criteria for PRES after detailed investigation of clinical charts and imaging studies were separated into patients with eclampsia‐preeclampsia and other predisposing causes. Various imaging features at onset of symptoms and on follow‐up as well as clinical and paraclinical data were analyzed. Results: A total of 24 patients with preeclampsia‐eclampsia associated PRES and 72 patients with PRES of other predisposing causes were included into the study. In preeclampsia‐eclampsia patients, headaches were significantly more frequent as initial PRES‐related symptom (P < 0.001), whereas altered mental state was significantly less frequent (P = 0.001). Thalamus, midbrain, and pons affection was significantly less frequent in preeclampsia‐eclampsia associated PRES (P = 0.01). Preeclampsia‐eclampsia patients had significantly less severe edema, less cytotoxic edema, hemorrhage and contrast enhancement, while more frequent complete resolution of edema and less frequent residual structural lesions were seen on follow‐up imaging. Conclusion: In our PRES cohort, we found major clinicoradiological differences between preeclampsia‐eclampsia and other predisposing causes pointing toward a less severe course of disease in preeclampsia‐eclampsia.     

Portal‐systemic shunt encephalopathy presenting with diffuse cerebral white matter lesion: An autopsy case

We report herein an autopsy case of portal‐systemic encephalopathy (PSE) presenting with diffuse tissue rarefaction in the cerebral deep white matter. Clinically, the patient showed recurrent episodes of unconsciousness, abnormal behavior and urinary incontinence, as well as flapping tremor. Cognitive impairment and peripheral neuropathy developed following recurrent episodes. Although conventional arterial portography revealed a small portal‐systemic collateral vessel of a left gastro‐renal venous shunt, abdominal CT and liver biopsy showed no evidence of liver cirrhosis and serum ammonia level showed a mild increase. T2‐weighted MRI demonstrated symmetrical signal hyperintensities in the deep white matter. Neuropathological findings showed Alzheimer type II astrocytes in the deep layers of the cerebral cortices and severe tissue rarefaction with no or slight reactive astrocytosis in the subcortical and deep white matter. These white matter changes have been reported infrequently in patients with PSE. The present case suggests that chronic PSE without liver cirrhosis may develop diffuse white matter lesions.     

Isolated brainstem involvement in posterior reversible encephalopathy syndrome: a case report and review of the literature

Posterior reversible encephalopathy syndrome (PRES) is a clinical–radiological syndrome, reversible vasogenic edema predominantly within parieto-occipital regions. However, isolated brainstem involvement in PRES has been rarely reported, little is known about its clinical manifestations, radiological features and outcomes. We reported a case with PRES with only brainstem involvement and performed a systematic review of published cases. Twenty-four cases, together with our case, were included in the analysis. Mean age was 43?years and 63% were males. Hypertension (50%), nephropathy (25%) and chemotherapy (21%) were the major risk factors. All patients except two had acute hypertension and 50% of patients had renal dysfunction at onset. The most common symptoms were altered consciousness (46%) and headache (46%), Seizure was only presented in 21% of patients. All patients except two were treated with antihypertension. Most patients recovered to their neurological baseline. Clinicians should recognize this unique variant finding in PRES. which always affects males with severe hypertension, especially combined with renal dysfunction. Antihypertensive treatment is the most widely used therapy. Outcome is usually well.     

The NADPH oxidase Nox2 regulates VEGFR1/CSF‐1R‐mediated microglial chemotaxis and promotes early postnatal infiltration of phagocytes in the subventricular zone of the mouse cerebral cortex

The phagocyte NADPH oxidase Nox2 generates superoxide ions implicated in the elimination of microorganisms and the redox control of inflammatory signaling. However, the role of Nox2 in phagocyte functions unrelated to immunity or pathologies is unknown. During development, oriented cell migrations insure the timely recruitment and function of phagocytes in developing tissues. Here, we have addressed the role of Nox2 in the directional migration of microglial cells during development. We show that microglial Nox2 regulates the chemotaxis of purified microglia mediated by the colony stimulating factor‐1 receptor (CSF‐1R) and the vascular endothelial growth factor receptor‐1 (VEGFR1). Stimulation of these receptors triggers activation of Nox2 at the leading edge of polarized cells. In the early postnatal stages of mouse brain development, Nox2 is activated in macrophages / microglial cells in the lateral ventricle or the adjacent subventricular zone (SVZ). Fluorescent microglia injected into the lateral ventricle infiltrate the dorso‐caudal SVZ through a mechanism that is blocked by pretreatment of the injected cells with an irreversible Nox inhibitor. Infiltration of endogenous microglia into the caudal SVZ of the cerebral cortex is prevented by (1) Nox2 gene deficiency, (2) treatment with a Nox2 inhibitor (apocynin), and (3) invalidation of the VEGFR1 kinase. We conclude that phagocytes move out of the lateral ventricle soon after birth and infiltrate the cortical SVZ through a mechanism requiring microglial Nox2 and VEGFR1 activation. Nox2 therefore modulates the migration of microglia and their development.     

The role of IL‐12 and TNF‐α in AIDP and AMAN

Background: Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy (AMAN) have been described as two major subtypes of Guillain‐Barré syndrome (GBS); however, the possible difference of their immune‐inflammatory pathogenesis remains unclear. Methods: In this study, by using FACS and enzyme‐linked immunosorbent assays analyses, the role of Th1 cytokines tumour necrosis factor‐α (TNF‐α), interleukin‐12 (IL‐12) and their receptors on peripheral blood mononuclear cells (PBMCs) and in serum concentrations were investigated in AIDP and AMAN. Results: The results showed enhanced IL‐12, IL‐12R1 in AIDP and TNF‐α in AMAN during the acute phase, as well as increased TNF‐α and TNFR1 during the plateau phase of AIDP. Intravenous high dose immunoglobulin decreased IL‐12R1 expression on cells in AIDP, but increased TNF‐α and TNFR2 in AMAN. Discussion: Our data suggest that IL‐12 promotes disease development in AIDP and in contrast to previously inflammatory assumptions, TNF‐α may play double roles in GBS. The anti‐inflammatory role of TNF‐α realized through TNFR2 in AMAN is possibly a therapeutic mechanism in the IVIg treatment of AMAN.