Sporadic Creutzfeldt-Jakob disease: magnetic resonance imaging and clinical findings.

OBJECTIVE: To assess if clinical features, prion protein codon 129, and molecular subtype correlate with MRI basal ganglia hyperintensity in sporadic Creutzfeldt-Jakob disease (CJD). METHODS: The authors studied 219 patients including 153 confirmed CJD cases for their neurologic symptoms and MRI findings. The MRI was assessed by a blinded investigator for the presence of high signal intensity on T2-weighted images in the basal ganglia. RESULTS: Patients with basal ganglia high signal on T2-weighted images were more likely to present with rapid progressive dementia in an early stage and shorter disease duration (median 6.7 months and 8.6 months). Surprisingly, among the CJD cases, patients without signal increase of the basal ganglia were shown to have a higher frequency of extrapyramidal disturbances (82% vs 70%). More striking differences were found for symptoms such as depression and sensory disturbances, which were more frequent among cases without signal increase. MRI was more likely to be diagnostic in patients with MV2 molecular subtype. CONCLUSIONS: Selected clinical and pathologic features correlate with the presence of basal ganglia high signal on T2-weighted MRI in patients with definite or probable CJD.

Magnetic resonance imaging in the clinical diagnosis of Creutzfeldt-Jakob disease.

OBJECTIVE: To evaluate the diagnostic usefulness of magnetic resonance imaging (MRI) in the clinical diagnosis of Creutzfeldt-Jakob disease (CJD). BACKGROUND: Creutzfeldt-Jakob disease is a rare neurodegenerative disease that belongs to the group of human spongiform encephalopathies and usually affects elderly people. It is clinically characterized by rapidly progressive dementia and development of neurological symptoms, such as myoclonus or ataxia. Until now, neuroradiologic investigations have only played a minor role in establishing the clinical diagnosis of CJD, and they are often performed to exclude differential diagnoses. SETTING: A university hospital, base of the German National Creutzfeldt-Jakob Disease Surveillance Study. METHODS AND PATIENTS: In this study, MRIs from suspected cases of CJD were examined by one investigator blinded to the diagnosis. Patients were classified according to the established clinical and neuropathological criteria. RESULTS: Bilateral symmetric, high signal intensities on T2-weighted MRIs were present in the basal ganglia of 109 (67%) of 162 patients with CJD. In the control group, which consisted of non-CJD dementia patients, these abnormalities on T2-weighted MRIs were found in 4 (7%) of 58 patients. This corresponds to a high specificity in the differential diagnosis of CJD. CONCLUSION: These results indicate that MRI is a useful and valuable tool with reasonable sensitivity (67%) and high specificity (93%) and should be considered as an additional cornerstone in the clinical diagnosis of CJD.

Exploration of motor cortex excitability in a diabetic patient with hemiballism-hemichorea.

Hemiballism-hemichorea in older patients with hyperglycemia, associated with high signal intensity in the contralateral striatum on T1-weighted magnetic resonance scans, is now an accepted clinical entity. We present an additional patient with this disorder. Using transcranial magnetic stimulation, we show that intracortical inhibition in the motor cortex contralateral to hemiballism-hemichorea is increased. This finding is discussed in the context of current models of basal ganglia-thalamo-cortical connectivity.

[Diffusion-weighted MRI in patients with Creutzfeldt-Jakob disease]. / Diffusionsgewichtetes MRT bei Creutzfeldt-Jakob-Patienten.

Today the diagnosis of Creutzfeldt-Jakob disease (CJD) is proven only postmortem or by evidence of neuropathology. During the patient's lifetime EEG recordings or cerebrospinal fluid analysis may support the diagnosis. In most cases, T2-MRI scans show hyperintensities of the basal ganglia. A new imaging technique called diffusion-weighted MRI (DWI) has recently been established. The sensitivity of DWI was evaluated in five patients suspected of CJD. All five cases showed hyperintense signal changes in the basal ganglia on DWI sequences. These findings were more pronounced in DWI than in T2, FLAIR, or PD-weighted images. Thus, DWI seems to be the most sensitive sequence for detecting changes in patients with suspected CJD. Moreover, its short scanning time ensures that fewer artifacts occur, especially in the case of myoclonus.

Foix-Chavany-Marie (anterior operculum) syndrome in childhood: a reappraisal of Worster-Drought syndrome.

Foix-Chavany-Marie syndrome (FCMS) is a distinct clinical picture of suprabulbar (pseudobulbar) palsy due to bilateral anterior opercular lesions. Symptoms include anarthria/severe dysarthria and loss of voluntary muscular functions of the face and tongue, and problems with mastication and swallowing with preservation of reflex and autonomic functions. FCMS may be congenital or acquired as well as persistent or intermittent. The aetiology is heterogeneous; vascular events in adulthood, nearly exclusively affecting adults who experience multiple subsequent strokes; CNS infections; bilateral dysgenesis of the perisylvian region; and epileptic disorders. Of the six cases reported here, three children had FCMS as the result of meningoencephalitis, two children had FCMS due to a congenital bilateral perisylvian syndrome, and one child had intermittent FCMS due to an atypical benign partial epilepsy with partial status epilepticus. The congenital dysgenetic type of FCMS and its functional epileptogenic variant share clinical and EEG features suggesting a common pathogenesis. Consequently, an increased vulnerability of the perisylvian region to adverse events in utero is discussed. In honour of Worster-Drought, who described the clinical entity in children 40 years ago, the term Worster-Drought syndrome is proposed for this unique disorder in children.

How to improve the clinical diagnosis of Creutzfeldt-Jakob disease.

This paper describes a prospective follow-up of 364 patients initially notified as suspected Creutzfeldt-Jakob disease to a Surveillance Unit in Göttingen, Germany. Six patients were diagnosed as having genetic prion disease by blood analysis and were excluded from the study. After examination and review of the remaining 358, 193 were classified as probable Creutzfeldt-Jakob disease. However, autopsy revealed that five of the 193 did not have Creutzfeldt-Jakob disease (four cases, Alzheimer's disease; one case, cerebral lymphoma). Of the 54 patients classified as possible Creutzfeldt-Jakob disease, 10 had another diagnosis made at autopsy. Two of the 111 cases originally classified as having other diseases were found to have Creutzfeldt-Jakob disease on autopsy. Autopsy evidence, together with follow-up of the patients still living and those who died without autopsy, revealed a broad range of other diagnoses. In the younger age groups, the commonest were chronic inflammatory diseases including Hashimoto encephalitis, whilst rapidly progressive Alzheimer's disease was most common in the older age groups. The presence of 14-3-3 protein in the CSF discriminated better between Creutzfeldt-Jakob disease and other rapidly progressive dementias than did the EEG pattern or the MRI. The inclusion of this CSF protein in the criteria of Masters and colleagues (Ann Neurol 1979; 5: 177-88) improves the accuracy and confidence in the clinical diagnosis of Creutzfeldt-Jakob disease.

The Heidenhain variant of Creutzfeldt-Jakob disease.

OBJECTIVE: To investigate whether typical neuropathological and radiological findings can be identified in patients with the clinical diagnosis of the Heidenhain variant of Creutzfeldt-Jakob disease (CJD). DESIGN: Case study. The clinical symptoms, neuropathological findings, electroencephalograms, magnetic resonance images, and cerebrospinal fluid samples of 14 Heidenhain cases were evaluated. Neuropathological changes were compared with those in a group of 14 patients with ataxia as the leading clinical sign. SETTING: A university hospital, base of the German National Creutzfeldt-Jakob Disease Surveillance Study. PATIENTS: Medical records of 169 neurologically examined patients with prospectively classified and neuropathologically confirmed CJD were analyzed. MAIN OUTCOME MEASURE: Difference in neuropathological and radiological findings between patients with the Heidenhain variant and other patients with CJD. RESULTS: Of 169 patients with confirmed CJD, 20% showed characteristic clinical findings such as blurred vision, visual field restriction, metamorphopsia, or cortical blindness. Disease course of the Heidenhain group, as compared with the group of all patients with definite CJD, was significantly shorter (5.7 months vs 7.5 months; P=.02, t test). Neuropathological examination of patients with the Heidenhain variant showed most pronounced changes in the occipital lobe but less damage in the cingulate gyrus and basal ganglia compared with 14 patients with CJD who had ataxia as the leading clinical sign. Eleven (92%) of 12 genetically analyzed Heidenhain cases were homozygous for methionine at codon 129 of the prion protein gene (PRNP). In 9 of 9 cases, the 14-3-3 protein was present. In 7 (78%) of 9 cases, the level of neuron-specific enolase was elevated, with a concentration above 35 ng/mL. Periodic sharp-wave complexes were observed in 11 (78%) of the 14 cases. In 7 (63%) of 11 patients, magnetic resonance images showed symmetric hyperintensities in the basal ganglia in the T2- and proton-weighted sequence. In 4 of 11 cases the T2- and proton density-weighted images showed a pronounced signal increase confined to the gray matter of the occipital and visual cortex. Isolated atrophy of the visual cortex was noticeable in 2 of 11 cases. CONCLUSIONS: The clinical presentation of the Heidenhain variant of CJD was shown to correlate with the neuropathological findings of gliosis and nerve cell loss. In patients with visual disorders of unclear origin and signs of dementia, the differential diagnosis of a Heidenhain variant of CJD must be taken into consideration.

Recurrent pain after lumbar discectomy: the diagnostic value of peridural scar on MRI.

The association between peridural scarring and recurrent pain after lumbar discectomy is much debated. A recently published study found that patients with extensive peridural fibrosis were 3.2 times more likely to experience recurrent radicular pain than those with less extensive scarring. This finding may lead to an overestimation of peridural fibrosis in clinical practice. In a retrospective study we analyzed the records of 53 patients who underwent a lumbar MRI because of recurrent pain after first unilateral microdiscectomy. Patients were classified as those with radicular or non-radicular pain according to history and clinical findings. The diagnosis was confirmed by spinal anesthetic block. The extension of scarring was compared between the two groups of patients. The amount of epidural fibrosis was examined on contrast-enhanced MRI in axial slices subdivided into four quadrants. The amount of fibrosis was divided into four stages in each affected quadrant. We found no differences regarding the amount of peridural fibrosis between patients with radicular pain and patients with non-radicular pain. We conclude that the extent of peridural scarring as defined by MRI is of minor value in the differential diagnosis of recurrent back and leg pain after lumbar microdiscectomy.

Bright basal ganglia in T1-weighted magnetic resonance images are frequent in patients with portal vein thrombosis without liver cirrhosis and not suggestive of hepatic encephalopathy.

BACKGROUND/AIMS: Deposition of paramagnetic substances in basal ganglia, resulting in increased signals in T1-weighted magnetic resonance images (bright basal ganglia), is frequently seen in liver cirrhosis. The present study describes the prevalence of bright basal ganglia and its clinical significance in patients with long-standing portal vein thrombosis in the absence of liver cirrhosis. METHODS: Six patients with angiographically proven complete portal vein thrombosis and cavernomatous transformation without signs of acute or chronic liver disease were studied by magnetic resonance imaging of the brain, neuropsychiatric evaluation, psychometric tests, electroencephalography, and determination of arterial ammonia levels and of serum manganese concentrations from peripheral venous blood. RESULTS: Five out of six patients demonstrated increased signal intensity in the basal ganglia. Overt portal-systemic encephalopathy was not noted prior to or at the time of evaluation. Normal EEG results were recorded in all patients. Only one of the six patients had pathological results in at least two out of four psychometric tests. This latter patient had had a large right-sided brain infarction. Arterial ammonia concentrations were normal in four of the six patients; one patient with increased ammonia levels had concomitant renal insufficiency with azotemia. The other four patients had no relevant concomitant diseases. Serum manganese levels were non-significantly increased compared with a control group (p=0.06), but they were significantly correlated to basal ganglia signal intensity (R=0.88; p=0.02). CONCLUSIONS: Our results demonstrate that bright basal ganglia primarily represent shunt-induced alterations. They are not directly associated with disturbed liver function nor with portal-systemic encephalopathy.

Extensive cerebrospinal fluid enhancement with gadopentetate dimeglumine in a primitive neuroectodermal tumor.

We report a case of diffuse enhancement of the cerebrospinal fluid (CSF) after intravenous administration of gadopentetate dimeglumine in an 8-year-old girl with a primitive neuroectodermal tumor. The enhancement of the CSF was caused by leakage of gadolinium chelate complexes into the CSF, which was proved by CSF analysis.

Ultrasonographic assessment of the prevalence of fasciculations in lesions of the peripheral nervous system.

In previous studies, ultrasonography was a very sensitive method in detecting fasciculations. The present study was intended to examine the prevalence of ultrasonographically visible fasciculations in patients with neuromuscular diseases affecting the lower extremities. Ultrasonography of 9 muscles (rectus femoris, vastus lateralis, vastus intermedius, vastus medialis, sartorius, semitendinosus, tibialis anterior, gastrocnemius, and soleus muscles) was performed bilaterally in 70 adult healthy subjects and 172 patients with various neuromuscular diseases. Fasciculations were detected in 109 (63%) of 172 patients. The median value of affected muscles was 10 (range 1-18). Patients with spinal muscular atrophy (37/38, p < 0.001), hereditary motor and sensory neuropathy (24/25, p < 0.001), and lumbosacral radiculopathy with motor deficits (24/29, p < 0.001) exhibited fasciculations more frequently than did healthy volunteers. Radiculopathy with sensory deficits, lesions of either plexus or peripheral nerves, compartment syndrome, and myopathy were not associated with a significantly enhanced prevalence of fasciculations in the patient group compared to the control group. In summary, fasciculations are a frequent ultrasonographic sign in neuromuscular diseases. They are almost regularly found in patients with spinal muscular atrophy and those with hereditary motor and sensory neuropathy. Thus, the absence of fasciculations in ultrasonographic assessment should give cause for reconsidering these diagnoses.

Muscle imaging in inflammatory myopathies.

Myositides are characterized by perivascular and intrafascicular inflammatory infiltrates and often by fiber de- and regeneration. In chronic disease, muscle size decreases, and replacement of muscle parenchyma by adipose and fibrous tissue (and, in childhood myositis, calcifications of the muscles and subcutaneous fat) occurs. Muscle imaging techniques such as ultrasonography and magnetic resonance (MR) imaging facilitate the assessment of the type (edema, inflammation, fat, fibrosis, and calcifications), degree, and localization of these alterations. Both methods allow evaluation of the activity, chronicity, and severity of myositis and assist in directing the biopsy site. However, MR imaging is more sensitive in the detection of muscle edema, which is common in the early stages of inflammatory myopathies. In general, MR tomographic features provide more information regarding the differential diagnosis than do creatine kinase activity and even electromyography. Muscle imaging techniques should be considered in the diagnostic evaluation and to assist in treatment of inflammatory myopathies. This paper reviews the value and limitations of muscle imaging in inflammatory myopathies.

MR imaging of Creutzfeldt-Jakob disease.

PURPOSE: To describe the magnetic resonance (MR) imaging appearance of Creutzfeldt-Jakob disease (CJD). MATERIALS AND METHODS: MR images obtained in 29 patients who died of CJD (aged 53-77 years at death) were retrospectively reviewed by three neuroradiologists blinded to the diagnosis. RESULTS: Moderate to marked bilateral, symmetrically increased signal intensity was demonstrated in the putamen and caudate nucleus on T2- and proton-density-weighted MR images in 23 patients (79%). In six patients (21%), images showed no major signal intensity abnormalities. T1-weighted images revealed no signal intensity abnormalities and no contrast material enhancement. The degree of atrophy in the cortex and basal ganglia corresponded to the time between onset of symptoms and MR imaging. All patients with a disease duration of longer than 4 months had substantial volume loss. CONCLUSION: Although approximately 20% of the patients did not have MR imaging abnormalities, MR imaging did show signal intensity alterations due to gliosis and spongiform changes early in the course of CJD in the remaining 80%. The demonstration of bilateral areas of increased signal intensity that predominantly affected the caudate nuclei and the putamina on long-repetition-time MR images in an elderly patient with rapidly progressive dementia represents a specific finding and clearly should suggest the diagnosis of CJD.

Atypical and malignant meningiomas: evaluation of different radiological criteria based on CT and MRI.

The following are our results of a retrospective analysis of 214 patients, operated on meningiomas, in order to investigate radiological criteria of malignancy. Among these cases there were 31 patients with a histologically confirmed diagnosis of malignant subtypes. As uncertain signs of malignancy of ensuing radiological features are an irregular enhancement of contrast-media and the size of cerebral edema. Based upon CT and MR images we have developed a standardised, computerised evaluation method which enables us to study in detail the internal architecture of meningiomas.

Symptomatology, surgical therapy and postoperative results of sphenoorbital, intraorbital-intracanalicular and optic sheath meningiomas.

A series of 7 patients with optic sheath meningiomas, 3 intracanalicular and intraorbital, 2 intraosseus meningiomas of the sphenoid wing involving the optic canal, and 4 sphenoorbital meningiomas were reported. The choice of a surgical approach to the orbit was appropriate to the location and size of the tumour relative to the optic nerve. The most common complaints were proptosis, reduction of visual acuity and paresis of eye muscles. Patients with optic sheath meningiomas are threatened postoperatively by visual loss whereas the high recurrence rate has to be taken into consideration in cases of sphenoorbital meningiomas.

Intra- and paraventricular arteriovenous malformations: symptomatology, neuroradiological diagnosis, surgical approach and postoperative results.

A series of 8 patients with para- and intraventricular arteriovenous malformations (AVM) is presented. Confirmed by histopathological examination or based upon their history all of them sustained recurrent intraventricular or intracerebral haemorrhages. Our results strongly recommend a surgical removal of these AVMs as a feasible and mandatory form of treatment. Conservative methods, e.g., embolisation or gamma beam irradiation leave the patient susceptible to rebleeding which often results in devastating neurological deficits. Total removal of the AVM with minimal surgical trauma was achieved in 7 patients under controlled hypotension and was facilitated by stereotactic guidance in two patients. Post surgical re-bleeding was not observed in any of our patients even though in one case only a subtotal resection of the angiomatous malformation was achieved. Based on our experience, we advocate an inspection of the lateral ventricle in order to avoid leaving any intraventricular portion of the vascular malformation behind. MRI investigation is recommended because the multiplanar images clarify the topographic-anatomic location and its relation to important surgical landmarks.