Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex

 We report on a 1-year-old boy, with carbohydrate-deficient glycoprotein (CDG) syndrome type I due to phosphomannomutase deficiency. Radiologic examination of the skeleton revealed previously unreported bone abnormalities that could be included in a dysostosis multiplex: wide ribs, squared iliac wings, horizontal acetabular roofs, widening and modeling abnormalities of ischial and pubic bones, dorsolumbar kyphosis, and slight hook-like dysplasia of the first lumbar vertebrae. Wormian bones were also present. We suggest that these features may be due to hypoglycosylation of bone proteins and that CDG syndrome type I should be included in the differential diagnosis of dysostosis multiplex.     

Neuroradiological findings in Alagille syndrome

Alagille syndrome (ALGS) is a multisystemic disease caused by mutations in genes of Notch pathway, which regulates embryonic cell differentiation and angiogenesis. Clinically, ALGS is characterized by cholestasis, cardiac defects, characteristic facial features, skeletal and ophthalmologic abnormalities. The aim of this review is to illustrate neuroradiological findings in ALGS, which are less well-known and prevalent, including cerebrovascular anomalies (such as aneurysms, dolichoectasia, Moyamoya syndrome and venous peculiarities), Chiari 1 malformation, craniosynostosis, intracranial hypertension, and vertebral anomalies (namely butterfly vertebra, hemivertebra, and craniocervical junction anomalies). Rarer cerebral midline malformations and temporal bone anomalies have also been described.     

Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome

We describe seven children with the carbohydrate-deficient glycoprotein syndrome, an autosomal recessive inborn error of protein glycosylation characterised by failure to thrive, neurological dysfunction and a unique pattern of physical abnormalities. Neuroradiological investigations revealed cerebellar hypoplasia in all seven children. Two children also developed supratentorial atrophy following episodes of neurological deterioration.     

Pancerebellar syndrome in heat stroke: clinical course and CT scan findings

Summary We present the clinical course and computerized tomography (CT) findings in a case of pancerebellar syndrome due to heat stroke at the Mekkah Pilgrimage. CT scan was initially normal, but five months later, a considerable generalized cerebellar atrophy was seen despite remarkable clinical improvement.     

Neuroradiological findings in vascular dementia

Introduction There are multiple diagnostic criteria for vascular dementia (VaD) that may define different populations. Utilizing the criteria of the National Institute of Neurological Disorders and Stroke and Association Internationale pour la Recherche et l’Enseignement en Neurosciences (NINDS-AIREN) has provided improved consistency in the diagnosis of VaD. The criteria include a table listing brain imaging lesions associated with VaD. Methods The different neuroradiological aspects of the criteria are reviewed based on the imaging data from an ongoing large-scale clinical trial testing a new treatment for VaD. The NINDS-AIREN criteria were applied by a centralized imaging rater to determine eligibility for enrollment in 1,202 patients using brain CT or MRI. Results Based on the above data set, the neuroradiological features that are associated with VaD and that can result from cerebral small-vessel disease with extensive leukoencephalopathy or lacunae (basal ganglia or frontal white matter), or may be the consequence of single strategically located infarcts or multiple infarcts in large-vessel territories, are illustrated. These features may also be the consequence of global cerebral hypoperfusion, intracerebral hemorrhage, or other mechanisms such as genetically determined arteriopathies. Conclusion Neuroimaging confirmation of cerebrovascular disease in VaD provides information about the topography and severity of vascular lesions. Neuroimaging may also assist with the differential diagnosis of dementia associated with normal pressure hydrocephalus, chronic subdural hematoma, arteriovenous malformation or tumoral diseases. This work was presented at the ESNR 2005 (Barcelona, Spain) and is a recipient of a Cum Laude Award.     

成人线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)综合征浅析

目的探讨成人MELAS综合征的临床表现和影像特点,提高对该病的认识,减少误诊。方法复习线粒体脑肌病相关文献,回顾性分析2例经肌肉病理活检证实的MELAS综合征病人的临床和影像资料。结果病人均为卒中样起病伴癫间发作。影像检查提示:1不对称累及颞顶枕叶的"脑梗死"样病灶:CT示片状低密度影,MRI示片状稍长T1稍长T2信号,FLAIR呈高信号,扩散加权成像(DWI)呈高信号,表观扩散系数(ADC)图呈稍低信号;2病变同时累及大脑中动脉及大脑后动脉供血区;3MR血管成像(MRA)未见相应供血动脉狭窄或闭塞;4灌注加权成像(PWI)显示病变区异常高灌注;5磁共振波谱成像(MRS,TE=135 ms)示病灶区明显倒置的乳酸峰。实验室检查示血和脑脊液中乳酸含量明显升高。肌肉活检(改良Gomori Trichrome染色,MGT)示细胞内散在破碎红纤维。2例均确诊为MELAS综合征。基因检测线粒体DNA(mt DNA)A3243G点突变情况,病例1呈阴性,病例2呈阳性。病例1的病人于首次发病1年后复发,新发病灶向颞极迁移,原发病灶累及脑区萎缩。结论MELAS综合征临床较为罕见,临床表现和影像改变具有一定的特征,多模态MRI检查对本病的临床诊断具有重要的价值。最终确诊依赖于肌肉病理组织学检查。     

Neuroradiological and clinical findings in rhombencephalosynapsis

Rhombencephalosynapsis is an unusual disorder characterised by maldevelopment of the rhombencephalon, sometimes with supratentorial midline anomalies. We report MRI findings in a 39-year-old woman, the oldest in the literature. MRI demonstrated hypoplasia of the cerebellar vermis, with fusion of the cerebellar hemispheres and abnormally oriented folia. Supratentorial anomalies were also seen. Received: 26 April 1999 Accepted: 13 July 1999     

Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy,lactic acidosis,and stroke-like events

The mechanism of neurological disturbances in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is controversial. We studied 12 patients with MELAS using conventional and diffusion weighted MRI (DWI) and MR spectroscopy (MRS), to look at the physiopathology of the stroke-like events. Although conventional MRI showed lesions in all patients, DWI was more sensitive. One patient did not show high signal on DWI 48 h after a from stroke-like episode, but MRS demonstrated a lactate peak in left occipital lobe; 2 weeks after the attack, high signal was demonstrated on the right frontal lobe where MRS had shown a lactate peak. Our findings suggest a possible predictive ability of ¹H-MRS, in showing early MELAS lesions and supports the hypothesis that mitochondrial metabolic dysfunction may precedes abnormalities on DWI.     

Neuroradiological findings in a child with primary leptomeningeal melanoma

Summary A case of primary leptomeningeal melanoma in a child is presented. The patient was studied with multiple neuroradiological methods, however computed tomography (CT) provided the most important information. The CT findings with leptomeningeal tumor, although not completely specific, do suggest the diagnosis, thus providing important information to explain the acute onset of symptoms in a previously healthy child. This case also differs from previously reported cases in terms of the type of hydrocephalus associated with the tumor.     

Swyer-James综合征的CT表现

目的 分析Swyer-James综合征（SJS) CT表现，探讨其CT扫描和诊断价值。方法 28例胸部CT扫描患者，均有深吸气状态下胸片，其中5例有深呼气X线片，1例行支气管造影，2例经手术证实为闭塞性细支气管炎并支气管扩张。在常规深吸气后屏气螺旋CT扫描疑为SJS时，即进行深呼气后屏气状态下定位扫描和病变区螺旋扫描，观察病变肺叶容积变化和肺内气体潴留情况。结果 28例共累及56叶肺，CT显示全部肺叶透亮度增高和肺野血管纹理细小，其中51叶（91％）容积缩小，5叶（9％）容积正常；而胸片显示肺叶透亮度增高29叶（52％）、其中容积缩小19叶（66％）；深呼气CT扫描均发现受累肺叶不同程度的气体潴留，而5例深呼气X线片仅发现3例共5叶有气体潴留；同时，CT显示合并支气管扩张24例、肺结核9例、细支气管炎10例和节段性肺不张2例，而胸片发现肺结核6例，细支气管炎4例。结论 深吸气和深呼气CT扫描是诊断和鉴别诊断SJS的最佳方法，明显优于胸片。     

橄榄桥脑小脑萎缩SPECT脑显像和MRI对比研究

目的 评价SPECT脑血流灌注显像在橄榄桥脑小脑萎缩（OPCA）诊断中的价值。方法 对20例OPCA患者行SPECT脑血流灌注显像和头颅MRI检查,并对各项检查结果进行比较。结果 OPCA患者的SPECT显像异常表现为脑局部血流低灌注,以脑干、脑小及基底节为主,也可累及大脑各叶;与MRI比较,SPECT显示病变范围更广泛;SPECT和MRI的异常率分别为95％和75％。结论 SPECT脑血流灌注显像为诊断OPCA提供了新方法,灵敏度优于MRI;SPECT与MRI相结合,有助于提高OPCA诊断的准确性。     

Magnetic resonance imaging and proton MR spectroscopy of the brain in a patient with carbohydrate-deficient glycoprotein syndrome type I

This is a report on a case of carbohydrate-deficient glycoprotein syndrome (CDGS) with neurological deficits. Magnetic resonance (MR) images showed remarkable atrophy of the cerebellum and brainstem, and hypointensity was seen in the pallidum on diffusion-weighted images (DWI), suggesting deposits of metal substances. In the cerebellum, proton MR spectroscopy (MRS) showed decreased concentrations of N-acetylaspartate and a complex of glutamine and glutamate (Glx) while the concentration of myo-inositol was increased, indicating neuronal impairment and gliosis. In the parietal lobe, there was an increased concentration of Glx, possibly reflecting dysfunction caused by liver injury.     

Vogt-小柳-原田综合征眼部MRI表现

目的 探讨Vngt-小柳-原田综合征(VKHS)的眼部MRI表现及其诊断价值.方法 对14例(男7例,女7例,年龄10～62岁)经临床确诊的VKHS患者的眼部MRI表现进行回顾性分析.结果 14例(28眼)在MRI均表现为视网膜.脉络膜复合体增厚,呈等T1、等T2信号.6例(12眼)伴有视网膜脱离,5例(10眼)伴有睫状体的异常增厚和强化,2例(4眼)伴有视神经炎.11例(22眼)行增强扫描,可见病变呈明显均匀强化.结论 MRI可很好地显示该病的眼部表现和累及范围,有助于VKHS的诊断及随访观察.     

Extended MRI findings of intersection syndrome

Objective  The symptoms and physical findings of intersection syndrome have been well described in the clinical medical literature. However, the magnetic resonance imaging (MRI) findings in patients with intersection syndrome of the forearm have only recently been described in a small number of patients. We review our experience with imaging of intersection syndrome, describe previously unreported MRI findings, and emphasize modifications to MRI protocols for its evaluation. Materials and methods  Institutional review board approval was obtained for this retrospective review of patients with MRI findings consistent with intersection syndrome of the forearm during the period from January 2004 to September 2006. Six patients were identified, three males and three females, with an average age of 39.3 years. The MRI examinations were reviewed to assess signal abnormalities within and adjacent to the first and second dorsal extensor tendon compartments (DETC): tendinosis, peritendinous edema or fluid, muscle edema, subcutaneous edema, and juxtacortical edema. The overall longitudinal extent of signal alterations was measured as well as the distance from Lister’s tubercle to the crossover of the first and second DETC. Results  Review of the MRIs showed increased intrasubstance tendon signal suggesting tendinosis in two of the six patients, peritendinous edema or fluid in all six patients, muscle edema in five of the six patients, and subcutaneous edema in three of the six patients. Juxtacortical edema was seen in one patient. Peritendinous edema or fluid extended distally beyond the radiocarpal joint in three of the six patients. The average distance from Lister’s tubercle to the crossover of the first and second DETC was 3.95 cm, in keeping with recently published data. Conclusion  Intersection syndrome is an uncommon MRI diagnosis. In addition to the previously described MRI findings of edema adjacent to the first or second DETC, possibly with proximal extension and subcutaneous edema, we have identified additional abnormalities: tendinosis, muscle edema, and juxtacortical edema. In addition, our review shows that first and second DETC signal abnormalities in patients with intersection syndrome are not necessarily limited to the site of crossover but can extend distally beyond the radiocarpal joint. As standard wrist protocols may not include the area of intersection between the first and second DETC, coverage may need to be extended to the mid-forearm.     

Osmotic demyelination syndrome with a dysequilibrium syndrome: reversible MRI findings

Abstract Neurological disorders may be seen in end-stage renal disease patients due to uraemia or to complications of dialysis. A dysequilibrium syndrome may be seen, usually soon after or towards the end of haemodialysis. This group of patients has no particular findings on MRI. On the other hand, the osmotic demyelination syndrome has definitive MRI findings, not to date reported with the dysequilibrium syndrome. We report a patient with end-stage renal disease and the dysequilibrium syndrome who showed findings of osmotic demyelination on MRI. The patient had a convulsion after a first haemodialysis, with quadriparesis and hyperactive deep tendon reflexes and bilateral Babinski signs. The upper motor neurone signs lasted for a week. Meanwhile, he was also dysarthric and had dysphagia. He recovered neurologically without any residuum following appropriate treatment and there was improvement on MRI. Received: 25 March 1997 Accepted: 17 September 1997     

Stewart-Treves 综合征的 MRI 表现

目的：探讨 MRI 对 Stewart-Treves 综合征(STS)的诊断价值。方法回顾性分析48枚 STS 肿物的 MRI 表现,并与病理结果对照分析。结果48枚肿物均为实性,直径≥4 mm,根据 D2-40、CD31的表达结果将 STS 分为2型,STS-Ⅰ型(即血管肉瘤)47枚结节肿物,MRI 表现：T1 WI 呈稍低信号,T2 WI 呈稍高信号,与同层肌肉比较,结节信号明显增高,增强检查呈明显强化、且均匀。STS-Ⅱb 型(混合型淋巴管肉瘤)1枚肿块样肿物;MRI 表现：T1 WI、T2 WI 序列均呈高低混杂信号,以高信号为主,强化程度较低且不均匀。结论MR 能显示 STS 特征性信号表现,结合患者肢体慢性淋巴水肿病史,可以提高术前正确诊断率。     

Neuroradiological findings in two cases of isolated amyloidoma of the central nervous system

Neuroradiological findings in two cases of isolated cerebral amyloidoma are reported. Case 1: A 15-year-old male admitted because of left jacksonian seizure. Case 2: A 31-year-old man admitted because of temporal seizures. In both patients, CT scans showed spontaneously hyperdense and enhancing nodules. On MRI, lesions displayed signals isointense with surrounding edema on T1-weighted sequences and mildly hypointense on T2-weighted sequences if compared with edema; peripheral contrast enhancement after gadolinium administration was present. Histopathological examination of both specimens revealed the presence of acellular eosinophilic hyalinized material consistent with amyloid, forming confluent nodular masses in the white and gray matter.