Brain magnetic resonance imaging white-matter lesions and cerebrospinal fluid findings in patients with acute intermittent porphyria

BACKGROUND: Case reports display similarities between multiple sclerosis and acute intermittent porphyria (AIP). This study examines whether patients with AIP in general demonstrate white-matter lesions on brain magnetic resonance imaging (MRI) and/or abnormalities in plasma and/or cerebrospinal fluid (CSF) when examined outside attacks. We looked particularly for the presence of oligoclonal bands (OB) of immunoglobulin (Ig) in liquor. METHODS: Eight AIP gene carriers without previous episodes of porphyria, mean age 42.8 years (range 30-60), and 8 AIP gene carriers with previous episodes of porphyria, mean age 42.8 years (range 33-62), were examined with brain MRI, venous blood samples and lumbar punctures. RESULTS: Two male AIP gene carriers with previous episodes of porphyria, 58 and 35 years of age, had multiple white-matter, high-signal lesions on T(2)- weighted MRI sequences. Two AIP gene carriers without previous episodes of porphyria, 1 male and 1 female, had less than 5 such lesions. No OB were seen in the CSF in any patient, but 1 carrier had an increased level of protein in the CSF. Seven of 16 subjects (44%) had increased levels of HbA1c (>6.0), suggesting protracted hyperglycemia, and 3 further subjects had borderline levels (5.9). CONCLUSION: T(2)-weighted MRI sequences demonstrated multiple white-matter, high-signal lesions in 4 out of 16 AIP gene carriers (25%). No carrier demonstrated OB of Ig in CSF, making it unlikely that demyelinating lesions play a pivotal role in the pathogenesis of CNS symptoms in AIP. Only 1 AIP gene carrier had an increased level of protein in CSF; this contrasts with studies during acute attacks of porphyria. Seven subjects (44%) had abnormally high levels of HbA1c, in spite of the fact that no patient had a previous diagnosis of diabetes mellitus.     

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。     

Acute intermittent porphyria presenting as acute pancreatitis and posterior reversible encephalopathy syndrome

Acute intermittent porphyria (AIP) is an inherited metabolic disease that can affect the autonomic, peripheral and central nervous systems. Pancreatic diseases assocated with AIP is rarely reported. We report here a 60-year-old non-alcoholic male who had typical manifestations of AIP, including abdominal pain, constipation, tachycardia, hypertension, mental disturbances, psychiatric manifestations, seizures, peripheral neuropathy, and excessive excretion of porphyrin precursors in urine. Increases of serum amylase and lipase, as well as mild pancreatic edema on ultrasonography, were noted during the acute attack of AIP, suggesting concomitant acute pancreatitis. In this patient, brain magnetic resonance imaging revealed reversible multifocal cerebral lesions resembling a posterior reversible encephalopathy syndrome (PRES) during the acute attack of AIP. Because the clinical manifestations of acute pancreatitis could be present with an acute attack of AIP, early confirmation of diagnosis is mandatory to effectively manage the attack and avoid inappropriate treatment.     

磁敏感加权成像在脑静脉性血管畸形诊断中的应用

目的探讨磁敏感加权成像(SWI)在脑静脉性血管畸形中的诊断价值。方法回顾性分析21例脑静脉性血管畸形患者的影像学资料,所有患者均行常规MRI平扫与SWI序列扫描,评价SWI序列对脑静脉性血管畸形检出的优越性。结果 SWI发现脑静脉性血管畸形21例,T1WI发现病灶17例,T2WI发现病灶18例,常规MRI扫描序列呈点状或条形流空信号,且只可显示大部分扩张的引流静脉及部分扩张的髓静脉,SWI可以清晰的显示所有扩张的髓静脉及粗大的引流静脉,呈典型"水母头"状。结论 SWI较常规MRI扫描序列对脑静脉性血管畸形的显示更为敏感。     

Magnetic resonance imaging in tuberous sclerosis

Twenty-five patients with tuberous sclerosis were studied with magnetic resonance imaging (MRI), and these findings were compared with those of computed cranial tomography (CCT) and with the clinical severity of the disease. Multiple high-signal MRI lesions involving the cerebral cortex are characteristic of tuberous sclerosis and probably correspond to the hamartomas and gliotic areas seen pathologically. These cortical lesions were only occasionally seen with CCT. The periventricular calcific lesions characteristic of tuberous sclerosis are better visualized with CCT than with MRI, but the larger periventricular calcifications produce low-signal MRI abnormalities. Seven patients had high-signal MRI lesions of the cerebellum; small calcific cerebellar lesions were also noted with CCT in three patients. As in earlier studies, no clear correlation was seen between the number of abnormalities visible with CCT and the clinical severity of the disease. By contrast, the more severely affected patients tend to have a higher number of cerebral cortical lesions detected with MRI. Thus, MRI may be useful in predicting the eventual clinical severity of younger children with newly diagnosed tuberous sclerosis.     

多发性硬化的MRI与临床

报告４６例多发性硬化（ＭＳ）患者的ＭＲＩ与临床资料。其中临床确诊者３９例，实验室支持确诊者４例，临床近似确诊者３例。ＭＲＩ阳性２９例（６３．０４％）。病灶分布依序为脑室周围、大脑半球、脑干、基底节、小脑、胼胝体及视神经；本组临床定位病灶９３个，ＭＲＩ显示病灶４９个，其中３７个病灶与临床相符，１２个属亚临床病灶。结果提示ＭＲＩ对发现ＭＳ病灶虽有很高的敏感性，但ＭＳ的诊断仍需结合临床。     

脑裂头蚴病MRI影像学表现（附七例报道）

目的 探讨脑裂头蚴病的MRI影像学表现及其特点。 方法 收集经临床及手术病理证实的7例脑裂头蚴病患者的MRI资料,患者均行常规MRI平扫和增强检查,回顾性分析其MRI影像学特点。 结果 本组7例患者共有20个病灶,病灶T1WI表现为低或等信号,T2WI表现为高或等信号,增强后呈环形、结节、串珠、扭曲条索样强化,脑白质水肿变性,占位效应轻微或者负占位,其中3例患者病灶的位置和形态发生变化。 结论 脑裂头蚴病MRI增强图像强化特征具有一定特点,复查病灶移行性是其更重要的特异性。     

脑分水岭梗死的颅内外血管病变的影像学研究

目的 通过观察脑分水岭梗死的影像学表现研究其颅内外血管病变特征.方法 收集上海市杨浦Ⅸ中心医院神经内科自2006年3月至2007年3月收治的29例均经DSA检查且影像学表现为分水岭梗死患者的影像学资料,对其血管病变因素进行回顾性分析.结果 在29例表现为分水岭梗死的患者中,DSA提示18例患者存在大脑中动脉病变,6例存在颈内动脉病变.结论 颅内外大动脉病变为脑分水岭梗死的主要发病机制之一,主要表现为大脑中动脉及颈内动脉病变.     

Correlation of neuropsychological and MRI findings in chronic/progressive multiple sclerosis

Sixty patients with chronic/progressive MS received a newly assembled neuropsychological screening battery (NSB) and a brain MRI. A neuroradiologist blinded to NSB findings quantified cerebral lesions on MRI. We developed weighted brain area lesion scores according to number and size of cerebral lesions. Patients who were impaired on NSB testing had a significantly higher mean bihemispheric lesion score (X = 26.1) than those who were unimpaired (X = 17.4); this MRI lesion rating score correlated significantly with the cognitive summary score of the NSB (r = 0.35, p less than 0.01). However, we did not find a significant correlation between the Kurtzke Expanded Disability Status Scale and any MRI or NSB summary measures. Compared with the Mini-Mental State Exam (MMSE), the NSB cognitive summary score yielded a prevalence estimate for cognitive impairment that is more consistent with previous findings in chronic/progressive MS. The NSB is a useful screening test for cognitive dysfunction in chronic/progressive MS because of its relationship to cerebral lesions on MRI and its greater sensitivity than the frequently used MMSE.     

MELAS型线粒体脑肌病的MRI诊断

目的探讨合并乳酸血症和卒中样发作的线粒体脑肌病（MELAS）的磁共振成像（MRI）影像学特点。方法收集经临床病理证实的MELAS型线粒体脑肌病共6例,回顾性分析其MRI和磁共振波谱（MRS）资料。结果脑MRI检查,MELAS表现为大脑半球各叶大小不等片状病灶;病变位于脑皮质区,病灶的分布与脑血供分布不一致;自旋回波T1加权像呈低信号、T2加权像呈高信号;扩散加权成像（DWI）呈高信号。MRS分析显示病灶区见典型的乳酸盐峰,N-乙酰天门冬氨酸盐,肌酸值正常或略降低。扩散张量成像（DTI）显示病灶区脑皮质下白质纤维束破坏、中断、稀少。结论MELAS型线粒体脑肌病的病变形态、分布具有特征性,常规MRI与DWI、DTI及MRS等磁共振技术,对MELAS的定性诊断具有很高的价值。     

Leukoencephalopathy in HTLV-I-associated myelopathy: MRI and EEG data

Magnetic resonance imaging (MRI) of the brain and electroencephalography (EEG) were carried out for patients with human T-lymphotropic virus type I (HTLV-I)-associated myelopathy (HAM). Nineteen of 22 patients (86%) had abnormalities on brain MRI and/or EEG. Thirteen patients showed high signal intensity lesions scattered in the cerebral white matter, as seen on the T2-weighted MRI images. The lesions were mostly located in the subcortical and deep cerebral white matter and were not contiguous with the lateral ventricles. Patients with abnormalities on the brain MRI had a longer duration of disease and a greater disability than did those without MRI abnormalities. The EEG records showed definite abnormalities in 9, and minor abnormalities in 5. All patients with HAM for more than 5 years showed definite evidence of cerebral involvement. Our findings strongly suggest that a multifocal pathological process over the entire CNS is probably a common occurrence in HAM.     

A study comparing SPECT with CT and MRI after closed head injury.

After closed head injury nineteen patients had single photon emission tomography (SPECT) using the lipophilic tracer 99m-Technetium hexamethyl-propylene-amineoxime (HMPAO) to compare the defects shown by CT and MRI. SPECT showed more focal cerebral lesions than either CT or MRI alone or in combination. Most lesions shown by SPECT were not shown by CT or MRI in the corresponding anatomical regions. The most severely disabled patients showed the highest number of SPECT lesions (average four per patient) and the lowest (mean, SE) cerebral blood flow (718, 69 ml/min) compared with the less disabled patients (two per patient and 1058, 51 ml/min, p less than 0.05). There was a correlation between the Glasgow Outcome Scale grade and the global cerebral blood flow (r 0.74, p less than 0.05). The perfusion defects may correlate with clinical signs that were not explained by CT or MRI findings. SPECT may complement the clinical evaluation in the assessment of outcome after head injury.     

脑多发性硬化病灶和脑萎缩的MRI特点及其相关因素的研究

目的 探讨脑多发性硬化(MS)病灶和脑萎缩的MRI特点,并对其与脑萎缩的关系及其相关因素进行分析.方法 80例确诊的脑MS患者按照年龄分成两组;每例患者MRI检查时均进行5 mm层厚不间断横断面T1、T2加权像扫描;观察MS的病灶数目、信号和形态特点及分布规律;测量脑萎缩数据,并与正常对照组进行比较;对MS脑萎缩的相关因素进行分析.结果 (1)MRI显示脑MS病灶多呈卵圆形或类圆形,边界较清楚,典型病灶长轴与侧脑室切线垂直,病灶以等或稍长T1、长T2信号改变为主.(2)与健康对照组比较,脑MS患者脑室的测量径线明显增大,脑沟及外侧裂明显增宽,脑实质的测量径线明显缩小.(3)对MS患者脑萎缩的相关因素进行分析得出扩展残疾状态评分(EDSS)是脑萎缩的最主要预测因素.结论 脑MS的病灶多分布在侧脑室周围,以等或稍长T1、长T2信号为主,病灶形态多呈卵圆形或类圆形,边界较清楚;脑MS患者的病程、病灶的数目及直径以及EDSS得分均与脑萎缩明显相关;脑萎缩在脑MS患者中普遍存在并逐渐进展,其测量数据可作为临床监测MS进展的一个有用指标.     

Diffusion-Weighted Magnetic Resonance Imaging Characteristics of Hemorrhagic Transformation in Experimental Embolic Stroke

Diffusion-weighted magnetic resonance imaging (MRI) can detect ischemia within minutes of onset, but its ability to reliably detect hyperacute cerebral hemorrhage is unknown. The present study characterized diffusion-weighted, T2-weighted, and contrast-enhanced T1-weighted MRI appearances of hemorrhagic transformation within 5 hours of onset in experimental embolic stroke. Apparent diffusion coefficients and MRI signal characteristics were noted within corresponding regions of hemorrhage observed on gross pathology. Apparent diffusion coefficients were significantly increased within hemorrhagic lesions, but were still within the expected range for bland ischemia. The appearance of the hemorrhagic lesions on diffusion-weighted MRI was also very heterogeneous and not very useful for clinical screening. Other MRI modalities should be investigated, but computed tomography remains the only widely available clinical method of reliably detecting cerebral hemorrhage.     

Hypertensive encephalopathy involving the brainstem and deep structures: a case report

Hypertensive encephalopathy rarely presented with widespread edema in the cerebral white matters, deep structures and whole brainstem. A 80-year-old woman manifested as high arterial blood pressure, visual disturbance, severe headache, nausea, and vomiting. T2-weighted and fluid-attenuated inversion recovery magnetic resonance imaging showed high signal-intensity lesions in the cerebral white matter, cerebellum, basal ganglia, thalamus, and brainstem. Diffusion-weighted brain MRI did not show hyperintense signals in these lesions. These findings suggested the pathological basis of vasogenic edema. After control of hypertension, clinical symptoms and these edematous lesions on MRI gradually reduced.     

Moyamoya disease: importance of the MRI-MRA combination and difficulties in management and follow-up in 7 cases

PURPOSE: To point out the importance of both MRI and MR angiography for the diagnosis and follow-up of moyamoya disease. Materials and methods: We report seven cases. MRI was performed in the initial phase in three cases. MR angiography without conventional angiography led to the diagnosis in one case. Conventional angiography was performed in six cases. Follow-up MRI and MR angiography were obtained in two. RESULTS: The initial MRI revealed ischemic lesions in the sylvian territory in two cases, and a cerebral malformation in one, after-effect lesions in two, and cerebral atrophy and ventricular dilatation in one. Conventional angiography provided the diagnosis of moyamoya disease in all cases, associated with cerebral arteriovenous malformation in two. CONCLUSION: MRI and MRA should be performed for the diagnosis and follow-up of moyamoya disease.     

Intracranial and dermatological cryptococcal infection in an immunocompetent man.

We report the case of a 72-year-old man with a history of Parkinson's Disease who presented with a history of falls, cognitive impairment and depressed mood. Neurological examination revealed moderate rigidity and bradykinesia. Alterations to his anti-Parkinsonian medication resulted in improvements in his mobility but no change in mental state. He was also noted to have developed multiple raised skin lesions. One of these lesions was biopsied and grew Cryptococcus neoformans. He subsequently had a cerebral MRI scan which showed enhancing lesions, in the left parietal lobe and right superior cerebellar peduncle, consistent with intracranial cryptococcal infection. Images of one of the skin lesions and the cerebral MRI scan are shown.     

Pseudotumoral brain lesions: MRI review

Single or multiple space-occupying lesions on brain MRI, with or without contrast enhancement and/or perilesional oedema, evoke a neoplastic origin. However, a multitude of non-neoplastic disorders can simulate cerebral neoplasia. In this review, we will discuss the MRI characteristics of non-neoplastic disorders that can mimic cerebral neoplasia. Distinguishing MRI characteristics are discussed for each of these non-neoplastic disorders.     

MRI and the study of aphasia

Three-dimensional magnetic resonance imaging (MRI) was used to study various aphasia and neurobehavioral syndromes due to embolic or thrombotic cerebral infarction. Two patients are presented to illustrate how MRI may complement, and sometimes improve on, CT for the in vivo demonstration of anatomic changes underlying said syndromes. MRI images were reconstructed at planes selected to match CT, and at coronal planes through the entire anteroposterior extent of the lesions. Both CT and MRI detected lesions; however, MRI provided better differentiation of gray and white matter. Coronal reconstructions aid in optimally visualizing the relationship of lesions to the opercular and perisylvian gyri. CT may be inadequate to define actual extent of lesions, whereas MRI may more clearly show that apparently subcortical lesions can, in fact, involve the cortex as well.     

Lymphomatosis cerebri presenting as a rapidly progressive dementia: clinical, neuroimaging and pathologic findings

Primary central nervous system lymphoma (PCNSL) usually presents with clinical and neuroimaging findings consistent with single or multiple intracranial mass lesions. On cranial magnetic resonance imaging (MRI), such lesions are nearly always contrast enhancing, reflecting disruption of the blood-brain barrier at the site of tumor nodules. We describe 2 cases from the UCLA Medical Center who developed a rapidly progressive dementia due to extensive gray and white matter cerebral lesions involving much of the brain. In the patient who came to autopsy, widely infiltrating, focally necrotic B-cell plasmacytoid lymphoma was noted throughout the cerebral neuraxis. MRI findings in case 2 were consistent with diffuse lymphomatous brain infiltration without mass lesions, which was biopsy proven. We conclude that PCNSL may occur in a diffusely infiltrating form which may occur without MRI evidence of mass lesions or blood-brain barrier compromise. We refer to this entity as 'lymphomatosis cerebri' and add it to the differential diagnosis of a rapidly progressive dementia.