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Background Access to echocardiography in primary care is limited, but is necessary to accurately diagnose heart failure (HF). Aim To determine the proportion of patients with a GP’s diagnosis of HF who really have HF. Design and setting A cross-sectional study of patients in 30 general practices with a GP’s diagnosis of heart failure, based on the International Classification of Primary Care (ICPC) code K77, between June and November 2011. Method Electronic medical records of the patients’ GPs were scrutinised for information on the diagnosis. An expert panel consisting of two cardiologists and an experienced GP used all available diagnostic information, and established the presence or absence of HF according to the criteria of the European Society of Cardiology (ESC) HF guidelines. Results In total, 683 individuals had a GP’s diagnosis of HF. The mean age was 77.9 (SD 11.4) years, and 42.2% were male. Of these 683, 79.6% received cooperative care from a cardiologist. In 73.5% of cases, echocardiography was available for panel re-evaluation. Based on consensus opinion of the panel, 434 patients (63.5%, 95% confidence interval [CI] = 59.9 to 67.1) had definite HF, of which 222 (32.5%, 95% CI = 30.9 to 34.1) had HF with a reduced ejection fraction (HFrEF), 207 (30.3%, 95% CI = 29.0 to 31.6) had HF with a preserved ejection fraction (HFpEF), and five (0.7%, 95% CI = 1.2 to 2.6) had isolated right-sided HF. In 17.3% of cases (95% CI = 14.4 to 20.0), the panel considered HF absent, and in 19.2% (95% CI = 16.3 to 22.2) the diagnosis remained uncertain. Conclusion More than one-third of primary care patients labelled with HF may not have HF, and such overdiagnosis may result in inadequate patient management.

Computed tomography: a mandatory investigational procedure for the T-staging of advanced laryngeal cancer Eighteen patients underwent computed tomography (CT) prior to total laryngectomy. In order to assess the accuracy of CT scanning in the evaluation of carcinoma of the larynx, CT scans were prospectively interpreted and the extent of the tumour was recorded. The tumour extent was evaluated on whole-mount histologic sections of the laryngeal specimens, prepared in the horizontal plane, similar to the CT scan. The results were compared to assess the ability of CT to identify tumour infiltration in the horizontal plane accurately. Based on these findings it is clear that CT has its influence on the T-staging and on the choice of treatment of laryngeal cancer, i.e. radiotherapy versus surgery.

Mark J Valk,1 Berna D Broekhuizen,1 Arend Mosterd,1,2 Nicolaas P Zuithoff,1 Arno W Hoes,1 Frans H Rutten1 1Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, 2Department of Cardiology, Meander Medical Center, Amersfoort, theNetherlands Background: Presence of chronic obstructive pulmonary disease (COPD) in heart failure (HF) has prognostic and therapeutic implications. Exact prevalence estimates are lacking because most previous studies estimated the prevalence of COPD among HF patients while unstable and in the presence of pulmonary congestion.Methods: Community-dwelling patients with an established diagnosis of HF and in a stable phase of their disease were invited for spirometry. COPD was defined according to the Global initiative for chronic Obstructive Lung Disease (GOLD) classification and considered present if the ratio of the post-bronchodilator forced expiratory volume in 1 second and forced vital capacity was below 0.7.Results: Thirty of the 106 patients with HF (mean age 76 [standard deviation] 11.9 years, 57% male) had COPD (prevalence 28.3% [95% confidence interval (CI) 19.7%–36.9%]), with similar rates among those with HF and a reduced ejection fraction (18 individuals; prevalence 28.6% [95% CI 20.0%–37.2%]) and HF with preserved ejection fraction (12 individuals; prevalence 27.9% [95% CI 19.4–36.4]). Twenty-one (70%) of the 30 participants were newly detected cases of COPD.Conclusion: More than a quarter of the patients with HF concomitantly have COPD, with the large majority being previously unrecognized. Coexistence of COPD should be considered more often in these patients. Keywords: heart failure, COPD, prevalence, comorbidity, spirometry, diagnosis, primary care&nbsp

BACKGROUND: Heart failure (HF) is mainly detected and managed in primary care, but the care is considered suboptimal. We present the rationale, design and baseline results of the Treatment Optimisation in Primary care of Heart failure in the Utrecht region (TOPHU) study. In this study we assess the effect of a single training of GPs in the pharmacological management of patients with HF. METHODS/DESIGN: A cluster randomised controlled trial. Thirty primary care practices are randomly assigned to care as usual or intervention defined as a single training in the up-titration and management of HF drug therapy according to the heart failure guidelines of the European Society of Cardiology (ESC). Patients with a GP's diagnosis of HF will be re-evaluated by an expert panel of two cardiologists and a GP with expertise in HF to come to a definite diagnosis of HF according to the ESC heart failure guidelines. Those with definite HF will be analysed in this study. Drug use will be measured after six months, health status after twelve months, and heart-related hospital admissions and all-cause mortality after two years. DISCUSSION: Our cluster randomised trial will show whether a single training of GPs improves the pharmacological management of patients with HF and confers beneficial effects on health status after one year, and cardiac hospital admissions and all-cause mortality after two years of follow-up. TRIAL REGISTRATION: ClinicalTrials.gov Identifier NCT01662323.

We reviewed the clinical and MRI findings in primary nerve-sheath tumours of the trigeminal nerve. We retrospectively reviewed the medical records, imaging and histological specimens of 10 patients with 11 primary tumours of the trigeminal nerve. We assessed whether tumour site, size, morphology or signal characteristics were related to symptoms and signs or histological findings. Histological proof was available for 8 of 11 tumours: six schwannomas and two plexiform neurofibromas. The other three tumours were thought to be schwannomas, because they were present in patients with neurofibromatosis type 2 and followed the course of the trigeminal nerve. Uncommon MRI appearances were observed in three schwannomas and included a large intratumoral haemorrhage, a mainly low-signal appearance on T2-weighted images and a rim-enhancing, multicystic appearance. Only four of nine schwannomas caused trigeminal nerve symptoms, including two with large cystic components, one haemorrhagic and one solid tumor. Of the five schwannomas which did not cause any trigeminal nerve symptoms, two were large. Only one of the plexiform neurofibromas caused trigeminal nerve symptoms. Additional neurological symptoms and signs, not related to the trigeminal nerve, could be attributed to the location of the tumour in three patients.

PURPOSE: To assess the diagnostic yield of magnetic resonance (MR) imaging in patients with symptoms and signs related to the trigeminal nerve. MATERIALS AND METHODS: Medical records and MR imaging studies in 112 consecutive patients referred for MR imaging over 5 years were evaluated. MR images were independently reviewed by two neuroradiologists unaware of the clinical findings. Signs and symptoms at presentation were associated with either a positive or negative MR imaging outcome. Logistic regression analysis was performed to identify clinical variables related to imaging results. RESULTS: Sixty-eight (61%) patients had positive MR imaging findings related to symptoms and signs. Trigeminal neuralgia was correlated with a negative MR imaging outcome (P < .001). Numbness (P < .01), impaired sensation (P < .001), other neurologic symptoms and signs (P < .01), progression of symptoms and signs (P < .001), and duration of symptoms of less than 1 year (P < .001) corresponded to a positive MR imaging outcome. Two regression models, each with three clinical parameters (progression, duration < 1 year, and trigeminal neuralgia or impaired sensation), had comparable accuracy for prediction of the MR imaging outcome. CONCLUSION: Clinical findings can be used to identify groups in which a high or a low yield of MR imaging is correlated with symptoms and signs related to the trigeminal nerve

Objective: The objective of this study is to describe milder and later onset variants of a recently described leukoencephalopathy with vanishing white matter.Background: The diagnostic criteria used currently for this disease include an early-childhood onset of neurologic deterioration.Methods: Clinical, MRI, and spectroscopic findings of five patients were reviewed who fulfilled all inclusion criteria for the disease of vanishing white matter, apart from the age at onset. In one patient histopathologic findings were documented.Results: Onset of the disease was in late childhood or adolescence in four patients, and one patient was still presymptomatic in his early twenties. The course of the disease tended to be milder than in the patients with early-childhood onset. MRI revealed a diffuse cerebral hemispheric leukoencephalopathy with evidence of white matter rarefaction. MRS of the abnormal white matter showed a serious decrease but not complete disappearance of all "normal" signals and, in some patients, the presence of extra signals from lactate and glucose. Changes in relative spectral peak heights were compatible with axonal damage or loss, but not with active demyelination or substantial gliosis. Autopsy in one patient confirmed the extensive rarefaction of the cerebral white matter. There was a commensurate loss of axons and myelin sheaths. Within the brainstem, pontine lesions were present, also involving the central tegmental tracts-a phenomenon previously described in early-onset patients.Conclusion: Later onset does occur in the disease of vanishing white matter, and both MRS and histopathology are compatible with a primary axonopathy rather than primary demyelination.

We studied the use of functional MRI (fMRI) with visual stimulation in nine patients with unilateral optic neuritis. Eight healthy subjects served as controls. Patients showed reduced activation upon stimulation of the affected eye, on average 33% (range 0 to 156%) of the average monocular activation in the control group. Decreased activation was also seen for the unaffected eye (61% of control values, range 3 to 133%). We conclude that fMRI with visual stimulation is feasible in patients with optic neuritis and deserves future study.

In multiple sclerosis (MS), periventricular lesions produce atrophy of the corpus callosum (CC), as evidenced by magnetic resonance imaging (MRI). We investigated whether CC atrophy in relapsing-remitting MS patients is related to functional deficits. We compared 14 mildly disabled (mean Expanded Disability Status Scale score 2.7) relapsing-omitting MS patients with 14 age- und sex-matched controls. CC size was determined using sagittal T1-weighted MRI. The function of the CC was studied using a neuropsychological battery and neurophysiological evaluation based on visual stimulation using a divided visual field paradigm. The total area of the CC in patients (mean 5.3 cm(2)) was significantly (P=0.002) smaller than in controls (mean 6.6 cm(2)). Patients showed left ear extinction using the dichotic listening test and impaired name learning, which was correlated with atrophy of the splenium. There were no differences in interhemispheric transfer time between patients and controls. Marked atrophy of the CC can be encountered in relapsing-remitting MS patients. The associated cerebral disconnection correlated with atrophy of expected regions of the CC, thus supporting topographical organization.

A survey was performed of magnetic resonance imaging (MRI) findings in 21 patients with congenital muscular dystrophy (CMD) with cerebral abnormalities to evaluate the contribution of MRI to the classification of CMD patients. In 5 patients with Walker-Warburg syndrome (WWS), MRI showed hydrocephalus due to aqueduct stenosis, generalized cerebral cortical agyric or pachygyric polymicrogyria, diffuse cerebral hemispheric white matter abnormalities, and malformations of posterior fossa structures. In 4 patients with muscle-eye-brain disease, MRI showed cortical dysplasia, but less severe than in WWS. The cerebral white matter either was normal or contained multiple focal abnormalities. Malformations of posterior fossa structures were present. Eight patients, classified as having classic merosin-deficient CMD (MD-CMD), had diffuse cerebral hemispheric white matter abnormalities, no other abnormalities. One patient with MD-CMD had only a few, focal white matter abnormalities. Three CMD patients had occipital agyria, otherwise normal gyration, multifocal or more diffuse cerebral white matter changes, and variable hypoplasia of pons and vermis. Two of the 3 patients had negative muscle merosin staining. The conclusion of the study is that MRI is an important adjunct in the classification of CMD patients. CMD with occipital agyria can be regarded as a newly recognized, separate CMD subtype.

Computed tomography (CT) was used to determine the fate of the bone graft in cleft lip and palate patients. Eight right-sided unilateral cleft lip and palate patients from the Free University Hospital in Amsterdam, treated with early, secondary bone grafting, were evaluated immediately after the operation and 1 year postoperatively. Approximately 70% of the volume of transplanted iliac crest bone was still present in the cleft area after 1 year.

Aims Heart failure (HF) is common in geriatric patients. Clinicians face diagnostic challenges primarily due to comorbidity and limited access to echocardiography. The purpose of this study was to identify independent determinants of the presence of HF in geriatric outpatients and to determine the optimal diagnostic strategy. Methods and results Geriatric outpatients [mean age 82 (±6) years, 30% men] with suspected HF underwent an extensive standardized diagnostic work-up. An expert consensus panel determined the presence of HF. Heart failure was present in 94 of 206 participants (46%). Male sex [odds ratio (OR) 2.0], age per 10 years (OR 1.6), nocturnal dyspnoea (OR 1.7), absence of wheezing (OR 2.1), loss of appetite (OR 1.7), and lower body mass index (BMI; OR 0.9) were independently associated with the presence of HF: the c-statistic of the model containing these items was 0.75. Of all additional tests, N-terminal pro-B-type natriuretic peptide (NT-proBNP) improved the diagnostic accuracy the most (OR ln NT-proBNP 2.8; c-statistic 0.92). A diagnostic rule, consisting of six clinical variables and NT-proBNP, showed good negative and positive predictive values. Conclusion Half of geriatric patients suspected of HF actually have HF. Apart from age, gender, and nocturnal dyspnoea, absence of wheezing, loss of appetite, and lower BMI were independently associated with the presence of HF. Symptoms and signs in combination with NT-proBNP reliably identified the presence or absence of HF in the vast majority of patients. Additional diagnostic tests, in particular echocardiography, can be targeted at those in whom the presence of HF remains uncertain and to ascertain the cause of HF.

Background One of the beneficial effects of exercise training in chronic heart failure (CHF) is an improvement in baroreflex sensitivity (BRS), a prognostic index in CHF. In our hypothesis-generating study we propose that at least part of this effect is mediated by neural afferent information, and more specifically, by exercise-induced somatosensory nerve traffic. Objective To compare the effects of periodic electrical somatosensory stimulation on BRS in patients with CHF with the effects of exercise training and with usual care. Methods We compared in stable CHF patients the effect of transcutaneous electrical nerve stimulation (TENS, N =23, LVEF 30±9%) with the effects of bicycle exercise training (EXTR, N =20, LVEF 32±7%). To mimic exercise-associated somatosensory ergoreceptor stimulation, we applied periodic (2/s, marching pace) burst TENS to both feet. TENS and EXTR sessions were held during two successive days. Results BRS, measured prior to the first intervention session and one day after the second intervention session, increased by 28% from 3.07±2.06 to 4.24±2.61ms/mmHg in the TENS group, but did not change in the EXTR group (baseline: 3.37±2.53ms/mmHg; effect: 3.26±2.54ms/mmHg) ( P (TENS vs EXTR)=0.02). Heart rate and systolic blood pressure did not change in either group. Conclusions We demonstrated that periodic somatosensory input alone is sufficient and efficient in increasing BRS in CHF patients. This concept constitutes a basis for studies towards more effective exercise training regimens in the diseased/impaired, in whom training aimed at BRS improvement should possibly focus more on the somatosensory aspect.

The findings of MR imaging in 3 patients with bone metastases from medulloblastoma are reported. The first patient showed focal lesions of low signal intensity on T1-weighted spin echo images at a time when bone scintigraphy was negative for metastases. This patient later developed extensive osteosclerotic lesions visible on plain films. The bone marrow of the second patient showed diffuse low signal intensity on T1-weighted images. After chemotherapy the signal intensity of the bone marrow increased which correlated with a return of normal hematopoietic tissue. A response to chemotherapy was also found on MR imaging and repeat bone marrow biopsies in a third patient. A consistent finding was a low signal intensity on pre-gadolinium images, but the pattern (focal or diffuse abnormal signal intensity) was different in each patient. To our knowledge, this is the first report on MR imaging findings in bone metastases from medulloblastoma.

We analyzed CT scans of the spine obtained in patients with vertebral metastases to determine what specific portion of the vertebra is initially involved by metastasis. The CT findings were then correlated with the abnormalities seen on plain films. Forty-five patients with histologically proved metastases in 95 vertebrae were included in the study. In all patients, CT scans and plain films of the spine were obtained within 1 week of each other. Analysis of the CT scans showed that the vertebral body was the portion of the vertebra that was most frequently destroyed by the metastases. Destruction of a pedicle was never identified in the absence of involvement of the body. The opposite was true on plain films, in which the most common finding was destruction of the pedicles. CT showed that the position of the metastases in the vertebra correlated with the sites of entry of the vertebral vessels. Our results show that the initial anatomic location of metastases within vertebrae is in the posterior portion of the body. Analysis of CT scans shows that the body is involved before the pedicles, although destruction of the pedicles is the most common finding on plain films. The pedicles are not the primary site of metastatic involvement. Destruction of the pedicles occurs only in combination with involvement of the vertebral body.

Long-face subjects have smaller maximum molar bite forces than do normal individuals. This has been attributed both to differences in moment arms and size of the jaw muscles. In this study, a comparison was made between the mid-belly cross-sectional areas of the jaw muscles of 13 long-face and 35 normal adults by means of serial MRI scans. The subjects were selected on the basis of anterior lower face height as a percentage of anterior total face height. These and other cephalometric variables were measured from lateral radiographs. In the long-face group, the cross-sectional areas of the masseter, medial pterygoid, and anterior temporal muscles were, respectively, 30%, 22%, and 15% smaller than in the control group. By a discriminant analysis and a multivariate analysis of variance, these differences were found to be significant (p < 0.001). The findings of this study hint that differences in the sizes of the jaw muscles of long-face and normal subjects might explain, in part, the observed differences in maximum molar bite force.

In a series of 100 patients with head and neck carcinoma, the preoperative histopathologic findings of palpation and magnetic resonance imaging were compared with regard to both laterality and lymph node level (I through V). The overall error for palpation in detecting affected sides was 32%. Gadolinium-enhanced magnetic resonance images reliably upgraded 60% of the clinically negative necks, the overall error of magnetic resonance imaging being 16%. However, for both modalities, the sensitivity per level was too low to allow for selective neck dissections in case of only one positive level. These findings show that apart from primary tumor grading, magnetic resonance imaging can improve the preoperative grading of cervical lymph nodes. In selected cases, this may change the treatment plan to a "wait-and-see" policy or a more conservative type of neck dissection.

In the last decade an increasing number of peroxisomal disorders has been recognized. Almost all peroxisomal disorders affect the central nervous system. Many of them lead to demyelination, some of them lead to migrational disturbances. The MR pattern of X-linked adrenoleukodystrophy is well known, but the pattern of the other peroxisomal disorders is less well known. We evaluated the gray and white matter abnormalities of 20 patients on 32 occasions. We compared the results with histological data and in this way came to the description of a number of characterisitc MR patterns occurring in peroxisomal disorders: (1) Neuronal migrational disturbances in combination with hypomyelination, dysmyelination or demyelination. (2) Symmetrical demyelination of posterior limb of the internal capsule, cerebellar white matter and brain stem tracts with a variable affection of cerebral hemispheres. (3) Symmetrical demyelination, exhibiting two zones, starting in the occipital area and spreading outwards and forwards; affection of brain stem tracts. (4) Less characteristic patterns of demyelination. The patterns are illustrated and differentiation from other disorders is discussed.

After birth the human brain is subject to major maturational changes, which are associated with changes in the biochemical composition of the brain and brain metabolism. Magnetic resonance (MR) spectroscopy has special capabilities in the analysis of in vivo metabolism. Volume-selective proton and phosphorus MR spectroscopy of the brain was performed on a 1.5-T magnet in 41 healthy children aged 1 month to 16 years. With advancing age, phosphorus spectra revealed a decrease in the ratios of phosphomonoesters (PMEs) to beta-adenosine triphosphate (ATP) and PMEs to phosphocreatine (PCr) and an increase in the ratios of phosphodiesters to beta-ATP, PCr to beta-ATP, and PCr to inorganic phosphate (Pi). No significant changes were observed in Pi/beta-ATP and pH. No changes occurred after the age of 3 years. Proton spectroscopy revealed an increase in the ratios of N-acetylaspartate (NAA) to choline (Ch) and NAA to creatine (Cr) and a decrease in Ch/Cr with increasing age. The most rapid changes were noted during the first 3 years of life, but changes were still observed at the age of 16 years.

We studied the etiology, diagnosis and natural course of myeloproliferative disease (MPD) in 40 consecutive patients with Budd-Chiari syndrome (BCS). In 38% of the BCS patients with MPD another etiological factor was found. JAK2 mutation was present in 41% of the tested BCS patients. Survival was not significantly affected by the presence of MPD.

Item does not contain fulltext PURPOSE: The aim of this study was to correlate hypoxic-ischemic white matter damage on neonatal MRI with MRI appearance and neurological outcome at the age of 1 1/2 years. PATIENTS AND METHODS: A sequential cohort of infants with periventricular densities on neonatal ultrasound was studied with neonatal MRI. Images of 46 infants with a mean gestational age of 31 weeks were obtained at a mean age of 20 days after birth and at 1 1/2 years. To establish agreement between the neonatal and follow-up MRI (general, motor, and visual scores), the weighted Cohen's kappa test was used. To establish the predictive power of neonatal MRI with respect to the neurologic indices at the age of 1 1/2 years, the sensitivity, specificity, and positive and negative predictive values were calculated. RESULTS: There was a moderately good to good agreement between the general, motor, and visual neonatal and follow-up MRI scores: weighted kappa = 0.59 (95% CI: 0.44 - 0.74), 0.82 (95% CI: 0.72 - 0.93), and 0.70 (95% CI: 0.56 - 0.84), respectively. Neonatal MRI scores provided a good prediction of the three neurological outcome measures (developmental delay, cerebral palsy, and cerebral visual impairment): sensitivity, specificity, and predictive values were high, with little difference between the three MRI scores. The 32 patients with (nearly) normal neonatal MRI scores were neurologically (nearly) normal at 1 1/2 years on all three outcome measures, whereas 8 patients with seriously abnormal neonatal MRI scores were neurologically abnormal at 1 1/2 years on all three outcome measures. CONCLUSION: Neonatal MRI is able to predict the precise localization and size of perinatal leukomalacia on follow-up MRI and provides a good prediction of neurological outcome at 1 1/2 years.

Item does not contain fulltext OBJECTIVE: To detail the radiologic findings in Mobius syndrome, in order to clarify its pathogenetic mechanisms. METHODS: High resolution three-dimensional T1 (MP rage) and T2 (CISS) weighted MRI were used to study the cisternal and canalicular portion of the seventh cranial nerve in six Mobius patients. Also, the anteroposterior dimension of the brainstem was measured at the level of the pons in the authors' 6 patients and in 20 age-matched healthy control subjects. Furthermore, the MRIs were evaluated for associated congenital brain anomalies. RESULTS: The facial nerves were absent in all six patients despite residual function in some facial muscles. The authors confirmed brainstem hypoplasia but did not find tegmental calcifications. The anteroposterior dimension of the brainstem ranged between 17 and 25 mm vs 20 to 27 mm for controls. In three patients there were congenital abnormalities in the posterior fossa. CONCLUSION: The absent facial nerves on MRI and the unusual distribution of the facial weakness, which is characteristic of Mobius syndrome, suggests that other cranial nerves, possibly the trigeminal, hypoglossal, or glossopharyngeal nerve, aberrantly innervate some lower facial muscles. Radiologic findings support the notion that Mobius syndrome is part of a more complex congenital anomaly of the fossa posterior.

A high plasma homocysteine concentration is an independent risk factor for large and possibly small vessel disease. We investigated the effects of homocysteine-lowering treatment with folic acid plus vitamin B(6) on markers of cerebrovascular atherosclerosis and cerebral microangiopathy.Using 158 healthy siblings (mean age 46.0 +/- 7.6 years) of patients with premature atherosclerotic disease, we performed a randomized, placebo-controlled trial using 5 mg of folic acid plus 250 mg of vitamin B(6) daily (n = 78) or placebo medication (n = 80). Participants were followed for 2 years with magnetic resonance angiography (MRA) (carotid stenosis; carotid and/or vertebral elongation) and magnetic resonance imaging (MRI) (white matter abnormalities; cerebral atrophy).Seventeen (10.8%) subjects refused MRA/MRI owing to claustrophobia and were excluded. From the remaining 141 participants, 68 received vitamin and 73 received placebo medication [42 (61.8%) and 48 (65.8%) had postmethionine hyperhomocysteinaemia, respectively]. Twenty-four participants (15.2%; 10 in the treatment and 14 in the placebo group) did not complete both years of the trial. Vitamin treatment was associated with an increase in plasma folate (13-fold vs. placebo; P0.001) and vitamin B(6) (8.8-fold; P0.001). Fasting and postmethionine total homocysteine concentrations decreased 38.7% (95% CI, 27.4-50.0) and 29.1% (95% CI, 19.2-39.0) vs. placebo (all P0.001). During follow up six individuals in the vitamin-treated and 11 in the placebo-treated group deteriorated in their outcome measurements. Vitamin treatment, as compared with placebo, was associated with nonsignificantly improved outcomes on both MRA and MRI outcome measurements (odds ratio 0.48; 95% CI 0.17-1.41; P = 0.18 and 0.48; CI 0.14-1.60; P = 0.23, respectively).These results could indicate a possible favourable effect of homocysteine-lowering treatment on cerebrovascular atherosclerosis and cerebral microangiopathy among healthy siblings of patients with premature atherosclerotic disease, but larger trials are required to establish this with certainty.

To study the influence of dietary-supplied long-chain polyunsaturated fatty acids on structural brain maturation in preterm infants and to investigate parameters of functional brain development, relating them to structural maturation. Other studies have suggested that dietary supplementation of long-chain polyunsaturated fatty acids in preterm infants may enhance their visual development. The influence on structural brain development has never been evaluated.In a prospective, double-blind study, 42 formula-fed premature infants were randomized to be fed either a standard preterm formula without long-chain polyunsaturated fatty acids or an identical formula supplemented with docosahexaenoic acid (0.015 g/100 ml) and arachidonic acid (0.031 g/100 ml). Infants with significant cerebral damage, retinopathy, chronic disease or feeding problems were excluded. Follow-up was focused on assessment of cerebral myelination by MRI. Psychomotor, mental and visual development was analysed and flash-visual evoked potentials were recorded.It was found that progress of myelination, mental and motor development and latencies of visual evoked potentials were not positively influenced by supplementation of long-chain polyunsaturated fatty acids. At each test age, visual acuity was slightly better in the supplemented infants than in the non-supplemented infants, but the difference never reached significance levelSupplementation of long-chain polyunsaturated fatty acids did not have a demonstrable positive influence on structural brain maturation. Related to this finding, in this small cohort of preterm infants without significant neurological damage, sample size being restricted by strict inclusion criteria and MRI procedures, no significant positive effects were found on psychomotor, mental and visual development.

BACKGROUND: Overweight individuals with metabolic syndrome are at increased risk of type 2 diabetes and coronary vascular disease. Weight gain and features of the syndrome may be ameliorated by dietary intervention. OBJECTIVE: We investigated the effects of replacing one-quarter of daily fat intake by complex or simple carbohydrate on body weight and intermediary metabolism. DESIGN: Forty-six subjects with > or =3 metabolic syndrome risk factors were randomly assigned to receive a control diet; a low-fat, complex carbohydrate diet (LF-CC); or a low-fat, simple carbohydrate diet (LF-SC) for 6 mo. Thirty-nine subjects completed the trial. About 60% of daily dietary intake was provided free of charge through a grocery store. Energy intake was ad libitum. Body weight, body mass index (BMI), blood pressure, and blood lipids were measured at months 0, 2, 4, and 6. RESULTS: There was a significant diet x time interaction on body weight and BMI (P < 0.001). Weight loss was greatest with the LF-CC diet [change in body weight: control diet, 1.03 kg (NS); LF-CC diet, -4.25 kg (P < 0.01); LF-SC diet, -0.28 kg (NS)]. Total cholesterol decreased by 0.33 mmol/L, 0.63 mmol/L, and 0.06 mmol/L in subjects consuming the control, LF-CC, and LF-SC diets, respectively (difference between the LF-CC and LF-SC groups: P < 0.05). There were no significant changes in LDL cholesterol, whereas HDL cholesterol decreased over time in all 3 groups (P < 0.0001). Triacylglycerol concentrations were higher in the LF-SC group than in the other 2 groups (P < 0.05). CONCLUSIONS: A low-fat, high-polysaccharide diet in overweight individuals with abnormal intermediary metabolism led to moderate weight loss and some improvement in serum cholesterol. Increasing simple carbohydrates did not promote weight gain, but nor was there improvement in body weight or lipid profile.

Purpose: The aim of this study was to evaluate the spectrum of developmental anomalies in the caudal region of patients with anorectal malformations (ARM) and relate them to the new insights in the embryogenesis of this region. Methods: Forty-nine patients with ARM were investigated with magnetic resonance imaging (MRI); 24 preoperatively (preop) and 25 postoperatively (postop). Of this group, 17 patients had a high (or intermediate) ARM, 28 a low ARM, and 4 a cloacal malformation (CM). The evaluation of the imaging studies included the level and type of ARM (preop); the developmental state of the sphincter muscle complex (SMC); and the associated anomalies of spinal cord, spine, and urogenital system. The anomalies detected were ordered and related to recent embryologic observations in the caudal region. Results: With MRI, the level of ARM was depicted effectively in 23 of 24 patients (96%) investigated preop, including 5 of 9 clinically proven fistulae in those with high ARM and CM (56%). Maldevelopment of the SMC was observed in 14 of 49 patients (29%). Associated anomalies of spinal cord and spine were found in 51% of patients, more frequently in those with high ARM, low ARM with fistulae, and cloacal malformations. Associated anomalies of the urogenital system were found in 37% of patients. Conclusions: As illustrated by the current study, MRI has become indispensable for the visualization of the nature of congenital ARM and associated anomalies. Moreover, MRI aids in understanding the morphology and pathogenesis of these complex congenital malformations. Based on the MRI and recent embryologic observations, a new and simplified classification of ARM is introduced, including a more appropriate nomenclature. J Pediatr Surg 37:1138-1145. Copyright 2002, Elsevier Science (USA). All rights reserved.

Objective: The purpose of this study was to evaluate the outcome of bone grafts in cleft palate patients, thus assessing the amount of bone necessary to facilitate eruption—especially in the buccopalatal direction—of the permanent canine into the bone graft. Study Design: Computed tomography scans taken immediately postoperatively and 1 year postoperatively of 42 unilateral and of 8 bilateral cleft lip and palate patients who underwent surgery at the age of 9 years (early secondary bone graft) or 12 years (late secondary bone graft) were compared. Three slices from the computed tomography scans taken immediately after the surgery were selected from the center of the bone graft and were then compared with corresponding slices from the 1-year postoperative computed tomography scans. Statistical analysis was performed by using the Wilcoxon 2-sample rank sum test. Results: In the unilateral cleft group, 70% of the transplanted bone remained in the cleft area after 1 year, whereas in the bilateral cleft group, only 45% of the initial bone graft remained after 1 year. Conclusion: No statistically significant difference was found between early secondary bone grafting and late secondary bone grafting. In most cases, a sufficient amount of bone was present in the target area to facilitate eruption of the permanent canine. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2001;92:136-41)

The relationship between MR patterns of brain damage and type or timing of perinatal hypoxia-ischemia was studied. MR images of 104 children with evidence of bilateral posthypoxic-ischemic brain damage and neonatal records were reviewed. Three different MR patterns were found. Periventricular leukomalacia occurred in 73 children, in 82% after a history of subacute or chronic hypoxia-ischemia, in 71% after preterm birth. Predominant lesions of basal ganglia and thalamus occurred in 21 children, in 95% preceded by acute profound asphyxia, in 85% after term birth. Multicystic encephalopathy occurred in 10 infants, in 70% preceded by mild signs of hypoxia-ischemia, followed by an unexpectedly severe encephalopathy, in 60% after term birth. Statistical analysis showed that the patterns of injury were primarily related to the type of hypoxia-ischemia. We conclude that the type of hypoxia-ischemia, rather than the postconceptional age at occurrence determines the pattern of brain injury.

BACKGROUND AND PURPOSE: In the early 1980s, diagnosing periventricular leukomalacia (PVL) in neonates by using cranial sonography was possible for the first time. Our purpose was to investigate the possibility of diagnosing PVL in the acute stage by using MR imaging. We evaluated early MR features of hypoxic-ischemic brain injury in neonates with periventricular densities (flares) on cranial sonograms to determine the added value of MR imaging over sonography alone for early diagnosis of brain damage. METHODS: In a prospective study, infants who showed flares and/or cysts on sonograms underwent MR imaging during the (sub)acute stage. RESULTS: Fifty infants were classified according to the highest sonographic grade up to the day of MR imaging: 23 infants had sonographic grade 1 (flares < 1 week), 15 had sonographic grade 2 (flares ≥ 1 week), four had sonographic grade 3 (small localized cysts), and eight had sonographic grade 4 (extensive periventricular cysts); none had sonographic grade 5 (multicystic leukomalacia) on the day of MR imaging. Overall, the additional information provided by MR imaging (over sonography alone) consisted of the depiction of hemorrhagic lesions in 64% of the infants. Extent and severity of the hemorrhages varied from isolated punctate lesions to extensive hemorrhages throughout the white matter; the latter were followed by cystic degeneration at autopsy in two infants. In nine of the 12 infants with cystic PVL, MR images showed more numerous or more extensive cysts. In addition, in two infants, MR images showed cysts not present on sonograms. In 32% of the infants, MR imaging provided no additional information; in these children, all but one had flares on sonograms whereas MR images showed no abnormalities or a zone of mild periventricular signal change. CONCLUSION: MR imaging can depict the precise site and extent of hypoxic-ischemic brain injury at an earlier stage and allows a wider differentiation of lesions as compared with sonography alone. Hemorrhagic PVL is considered to be rare, but was present in 64% of our study population.

A number of functional brain imaging studies indicate that the medial temporal lobe system is crucially involved in encoding new information into memory. However, most studies were based on differences in brain activity between encoding of familiar vs. novel stimuli. To further study the underlying cognitive processes, we applied a parametric design of encoding. Seven healthy subjects were instructed to encode complex color pictures into memory. Stimuli were presented in a parametric fashion at different rates, thus representing different loads of encoding. Functional magnetic resonance imaging (fMRI) was used to assess changes in brain activation. To determine the number of pictures successfully stored into memory, recognition scores were determined afterwards. During encoding, brain activation occurred in the medial temporal lobe, comparable to the results obtained by others. Increasing the encoding load resulted in an increase in the number of successfully stored items. This was reflected in a significant increase in brain activation in the left lingual gyrus, in the left and right parahippocampal gyrus, and in the right inferior frontal gyrus. This study shows that fMRI can detect changes in brain activation during variation of one aspect of higher cognitive tasks. Further, it strongly supports the notion that the human medial temporal lobe is involved in encoding novel visual information into memory.

The aim of our study was to assess the usefulness of fluid-attenuated inversion recovery (FLAIR) sequences in comparison with conventional spin-echo and inversion MR imaging in neonates for evaluation of myelination and for detection of hypoxic-ischemic brain injury. We reviewed early MR scans of 18 neonates with suspected ypoxic-ischemic brain injury. We reviewed early MR scans of 18 neonates with suspected hypoxic-ischemic brain damage. Myelination could be evaluated with confidence using conventional MR imaging in all but 2 infants; however, the presence of myelin was very difficult to assess on FLAIR images. Overall, 53 lesions or groups of lesions were identified. The FLAIR technique was more sensitive in 11 of the lesions; especially (precystic lesions could be identified much better and more cysts were found. Conventional MR imaging failed to identify 2 of the lesions and was more sensitive in 14 of the lesions; especially punctate hermorrhages and lesions in basal ganglia or thalami could be better determined. The FLAIR technique missed 3 of these lesions. In the remaining 28 lesions conventional MR and FLAIR images were equally diagnostic. The Flair technique and conventional MR imaging are complementary in detecting early sequelae of hypoxic-ischemic brain injury in neonates. The FLAIR technique is not suitable for assessing myelination of the neonatal brain; therefroe, FLAIR cannot replace conventional MR imaging.

PURPOSE: To describe imaging findings and their neuropathologic correlate in patients with cerebrotendinous xanthomatosis (CTX). MATERIALs AND METHODS: Computed tomographic (CT) and magnetic resonance (MR) images in 24 patients with symptoms (mean age at time of imaging, 37 years; mean disease duration, 18 years) were reviewed for site and frequency of brain, spinal cord, and Achilles tendon involvement. Two patients died; and imaging findings were compared with postmortem neuropathologic findings. RESULTS: Apart from nonspecific supratentorial atrophy and deep white matter changes, more typical hyperintense lesions were seen on T2-weighted images in the dentate nucleus (in 79% of patients), globus pallidus, substantia nigra, and inferior olive and extended into adjacent white matter as disease progressed. In these locations, lipid crystal clefts and perivascular macrophages, neuronal loss, demyelination, fibrosis, and reactive astrocytosis were found at microscopic examination. Hypointensity was sometimes found on T2-weighted images in the dentate nucleus and was related to deposition of hemosiderin and calcifications. CT depicted fewer lesions; all had low attenuation, except for the calcifications. Spinal cord MR imaging revealed increased signal intensity in the lateral and dorsal columns on T2-weighted images. Achilles tendon xanthomas displayed intermediate signal intensity on T1- and T2-weighted images. CONCLUSION: The typical pattern of MR imaging findings reflects the classic histopathologic findings and should prompt the diagnosis of CTX.

In vivo proton magnetic resonance spectroscopy of the brain demonstrated highly elevated levels of arabitol and ribitol in a 14-year-old boy with a white matter disorder and neuropathy of unknown origin. These polyols also were shown to be elevated in body fluids, suggesting an inborn error in polyol metabolism. The strong plasma/ cerebrospinal fluid/brain gradient, with concentrations increasing in that order, suggests a primary neurometabolic disorder. Thus far, a basic enzyme defect has not been identified.

The common virus integration site (VIS) Evi11 was recently identified within the gene encoding the hematopoietic G-protein-coupled peripheral cannabinoid receptor Cnr2 (also referred to as Cb2). Here we show that Cnr2 is a frequent target (12%) for insertion of Cas-Br-M murine leukemia virus (MuLV) in primary tumors in NIH/Swiss mice. Multiple provirus insertions in Evi11 were cloned and shown to be located within the 3′ untranslated region of the candidate proto-oncogene Cnr2. These results suggest that proviral insertion in the Cnr2 gene is an important step in Cas-Br-M MuLV-induced leukemogenesis in NIH/Swiss mice. To isolate Evi11/Cnr2 collaborating proto-oncogenes, we searched for novel common VISs in the Cas-Br-M MuLV-induced primary tumors and identified a novel frequent common VIS, Evi12 (14%). Interestingly, 54% of the Evi11/Cnr2-rearranged primary tumors contained insertions in Evi12 as well, which suggests cooperative action of the target genes in these two common VISs in leukemogenesis. By interspecific backcross analysis it was shown that Evi12 resides on mouse chromosome 10 in a region that shares homology with human chromosomes 12q and 19p. Sequence analysis demonstrated that Evi12 is located upstream of the gene encoding the molecular chaperone Tra1/Grp94, which was previously mapped to mouse chromosome 10 and human chromosome 12q22–24. Thus, Tra1/Grp94 is a candidate target gene for retroviral activation or inactivation in Evi12. However, Northern and Western blot analyses did not provide evidence that proviral insertion had altered the expression of Tra1/Grp94. Additional studies are required to determine whether Tra1/Grp94 or another candidate proto-oncogene in Evi12 is involved in leukemogenesis.

To substantiate differences in magnetic resonance (MR) patterns in clinical subgroups of multiple sclerosis (MS), we analyzed T2-weighted MR images of a large regional population of MS patients (n = 188). The patients had already been classified according to recent consensus definitions regarding the clinical course of MS into relapsing-remitting (RR), secondary progressive (SP) or primary progressive (PP). Significant (p0.01; Spearman test) differences were present between RR and SP patients regarding total lesion load, size and location of lesions. RR and PP patients showed similar MR patterns. PP and SP patients differed in total lesion load, small and medium-sized lesions. The degree of atrophy was highest for SP patients. The clinical progression rate [Expanded Disability Status Scale (EDSS)/disease duration] was similar for various subgroups; the MR progression rate (total lesion score/disease duration) was significantly larger for SP than for PP patients. The lesions load disability quotient (total lesion load/EDSS) differed between RR and PP patients and also between SP and PP patients. In SP patients, the total lesion load correlated significantly (Spearman rank correlation coefficient of 0.52) with EDSS. We conclude that PP patients differ in MR abnormalities from SP patients, that PP and RR patients have similar MR abnormalities and that RR and SP patients are at a different end of the same spectrum of the disease. As the dynamics and clinical impact of MS lesions are different in the various clinical subgroups, they should be considered separately in clinical trials.

Congenital anorectal malformations are found in many forms, and are frequently associated with other anomalies, especially of the spinal cord, spine, and urogenital system. Decisions concerning initial management of children with anorectal malformations can be made only after accurate determination of (a) the level and type of malformation, (b) the type of fistula, (c) the developmental state of the sphincter muscle complex, and (d) the presence of associated anomalies. Magnetic resonance imaging has proven to be the only modality to answer all these crucial questions, and has contributed to a better insight in the morphology and pathogenesis of such complex congenital malformations.

Postmortem unfixed whole brains from five multiple sclerosis (MS) patients were examined by MRI using a T2- and T1-weighted spin-echo (SE) sequence and histology to investigate the histopathologic characteristics of hypointense lesions on T1-weighted SE MR images. The degree of hypointensity was scored semiquantitatively by two blinded observers in reference to normal-appearing white matter. Signal intensities of the lesions and the normal-appearing white matter were measured to obtain contrast ratios. Hematoxylin-eosin stain was used to assess degree of matrix destruction (decrease of density of the neuropil) and cellularity of a lesion, Klüver-Barrera stain for degree of demyelination, Bodian stain for axonal density, and immunostaining of glial fibrillary acid protein for reactive astrocytes and fibrillary gliosis. Nineteen lesions were selected for analysis. Nearly all lesions were compatible with the chronic MS plaque: hypocellularity, absence of myelinated axons, in the presence of reactive astrocytes. Contrast ratios of the lesions were highly correlated (R = -0.90; p < 0.01), with degree of hypointensity scored semiquantitatively. Degree of hypointensity on T1-weighted SE images did not correlate with degree of demyelination or number of reactive astrocytes, but was associated with axonal density (R = -0.71; p = 0.001). A trend was found with degree of matrix destruction (R = 0.45; p = 0.052). We conclude that, in our limited sample, hypointense lesions seen on T1-weighted SE MR images are associated histopathologically with severe tissue destruction, including axonal loss. Our results need to be substantiated in a larger study on more varied patient material to evaluate the use of hypointense lesions as a surrogate marker of persistent deficit in MS patients.

It has been suggested that subjects with increased vertical craniofacial dimensions have relatively oblique orientated jaw muscles with a reduced possibility to restrain the vertical component of craniofacial growth. To test this hypothesis, relationships were investigated between the spatial orientation of the jaw muscles and the craniofacial morphology. Computer reconstructions of the external shape of the jaw muscles of 30 adult males with a normal skull were made with the use of serial magnetic resonance imaging (MRI) scans. The orientation of the jaw muscles was defined by a regression line through the centroids of the serial cross-sections. Sagittal and frontal projections of the moment arms of the muscles were measured with respect to the centre of the ipsilateral condyle. Craniofacial morphology was analysed three-dimensionally using lateral head films and coronal MRI scans. The cephalometric data were analysed statistically using regression and factor analyses. Six cephalometric factors with Eigen values higher than 1 were correlated with jaw muscle orientation and moment arm data, using a multiple regression analysis. The anterior face height factor was significantly correlated with the orientation of the jaw opening muscles in the sagittal plane but was not significantly correlated with the orientation of the mandibular elevators. The sagittal moment arms of the mandibular elevators showed significant correlations with the factors describing the gonial angle and the posterior face height. It was concluded that the variation of spatial orientation of the human jaw closing muscles is predominantly associated with the variation of mandibular morphology (expressed by the gonial angle) and the posterior face height. The orientation of the jaw opening muscles shows significant relationships with anterior vertical craniofacial dimensions. The hypothesis that persons with an increased anterior face height have relatively oblique orientated jaw elevators was rejected.

A study was performed in 48 neurologically normal preterm and term-born infants, with a postconceptional age at MRI varying between 302/7 and 46 weeks and a mean age of 342/7 weeks. The purpose of the study was to determine the normal progress of myelination on MRI in that age range. T1-and T2-weighted images of the brain were assessed for changes in signal intensity of white matter relative to gray matter. Multiple sites in the brainstem, cerebellum and cerebral hemispheres were assessed separately. The findings were correlated with the ages of the infants. As judged from relative signal intensities, myelin was present at the postconceptional age of 30-34 weeks in the following structures: tegmentum pontis (in particular medial lemniscus), superior and inferior colliculi, decussation of the superior cerebellar peduncles, crura cerebri, ventrolateral thalamus, lateral globus pallidus, dorsolateral putamen, dentate nucleus, middle and superior cerebellar peduncles, vermis cerebelli, cortex bordering the central sulcus and hippocampus. Little progress in myelination was noticed up to the postconceptional age of 46 weeks. Between 34 and 46 weeks, myelin appeared in the lateral part of the posterior limb of the internal capsule and in the central part of the corona radiata and became more prominently visible in the cortex bordering the central sulcus.

We identified nine children with a leukoencephalopathy of similar type according to clinical and MRI findings. The patients included three affected sibling pairs. The age range was 3 to 19 years. The onset of the disease was in childhood; the course was both chronic-progressive and episodic. There were episodes of deterioration following infections and minor head traumas, and these could result in unexplained coma. In eight patients with advanced disease, MRI revealed a diffuse cerebral hemispheric leukoencephalopathy, in which increasing areas of the abnormal white matter had a signal intensity close to that of CSF on all pulse sequences. In one patient in the early stages of disease, initial MRI showed diffusely abnormal cerebral white matter, which only reached the signal characteristics of CSF at a later stage. In the patients in whom the disease was advanced, magnetic resonance spectroscopy (MRS) of the white matter showed an almost complete disappearance of all normal signals and the presence of glucose and lactate, compatible with the presence of mainly CSF and little brain tissue. Spectra of the cortex were much better preserved. However, in addition to the normal resonances, there were signals representing lactate and glucose. MRS of the white matter in the patient whose disease was at an early stage was much less abnormal. Autopsy in one patient confirmed the presence of extensive cystic degeneration of the cerebral white matter with reactive change and a preserved cortex. Typical involvement of pontine tegmental white matter was suggested by MRI and confirmed by autopsy. The disease probably has an autosomal recessive mode of inheritance, but the basic metabolic defect is not known.

Inhomogeneous patient samples have been used in previous studies to determine the power of magnetic resonance imaging (MRI) for trial monitoring in multiple sclerosis (MS). These power-calculations might not be applicable to the active relapsing-remitting patient who is preferably included in trials. In order to reevaluate the power alculations for MRI in the monitoring of treatment in strictly relapsing-remitting MS and to compare the power of different trial designs we studied 12 relapsing-remitting MS patients prospectively for a median period of II months using monthly clinical assessments and gadolinium-enhanced MRI. A median number of two clinical relapses/patient occurred of which a median of one was treated with steroids. A median of 1.59 new lesions/scan/patient was detected (range 0–8). The total number of new active lesions correlated significantly with study period relapses (SRCC=0.72, P=0.023). Computer simulations using the bootstrap technique yielded mostly lower power values for a parallel groups design than in previous studies except for short follow-periods in larger samples. In this sample the open cross-over design was found to be between 20 and 40% more powerful. Results of power-calculations are clearly sample dependent implying that for treatment trial monitoring using MRI in relapsing-remitting MS conservative sample size estimates are to be used. In an active patient group open cross-over trial designs could be a very powerful alternative to parallel groups design.

PURPOSE: To compare two magnetic resonance (MR) imaging techniques for demonstration of vascular contact with the trigeminal nerve. MATERIALS AND METHODS: Thirteen patients with unilateral trigeminal neuralgia and 50 control subjects underwent three-dimensional fast inflow with steady-state precession (FISP) and contrast material-enhanced magnetization-prepared rapid acquisition gradient-echo (MP-RAGE) MR imaging. The images were independently reviewed by two neuroradiologists, who were blinded to the clinical details. Six of the 13 patients underwent surgery. RESULTS: Vascular contact with the trigeminal nerve at the root entry zone was seen on FISP images in 10 of 13 (77%) symptomatic nerves and in eight of 113 (7%) asymptomatic nerves (P < .001). MP-RAGE and FISP images demonstrated arterial contacts equally well. MP-RAGE images demonstrated one additional venous contact at the root entry zone in a patient with ipsilateral trigeminal neuralgia. Interobserver agreement was good for both FISP (kappa = 0.69) and MP-RAGE (kappa = 0.78) images. The presence of vascular contact at the root entry zone, seen on preoperative MR images, was confirmed in all six patients who underwent surgery. CONCLUSION: Both FISP and MP-RAGE MR imaging are useful in demonstrating vascular contact with the trigeminal nerve at the root entry zone in patients with trigeminal neuralgia

Three patients with propionic acidemia were studied. The first patient was diagnosed at the age of 9 mo, 3 mo after he developed hypotonia and choreoathetoid movements after an upper respiratory tract infection. The second patient was diagnosed at the age of 1.5 mo when she became comatose after nasogastric tube feeding because of failure to thrive. The third patient was diagnosed at the age of 5 d when she presented with feeding difficulties, hypotonia, and respiratory insufficiency. Magnetic resonance imaging (MRI) of the brain in all patients revealed delayed myelination and some cerebral atrophy. In the patient with choreoathetosis, MRI showed bilateral abnormalities in the signal intensity of the putamen and caudate nuclei. MRI of the other two patients showed normal basal ganglia. Proton magnetic resonance spectroscopy (1H MRS) from a voxel located in the basal ganglia revealed a decrease in N-acetylaspartate and myo-inositol peaks and an elevation of glutamine/glutamate. The presence of spectroscopic abnormalities in a stable metabolic condition, in particular the rise in glutamine/glutamate, indicates that the metabolic balance on cerebral parenchymal level is less optimal than estimated from biochemical analysis of urine, plasma, or cerebrospinal fluid.

PURPOSE: To provide a practical standard for normal development of gyri and sulci in preterm and term neonates. MATERIALS AND METHODS: Thirty-nine living preterm infants without substantial neurologic problems underwent magnetic resonance (MR) imaging of the brain. Five infants who were born at term but died of a nonneurologic disorder within 1 week and who underwent autopsy were examined after death with MR imaging. Seven cerebral surface areas were defined, and the development of gyri and sulci in each area was assigned a score between 1 and 5. RESULTS: The postconceptional age (PCA) range of the newborns was 30-42 weeks. When the gyral development scores were assessed as a function of PCA, four transition points could be discerned for the brain as a whole; these transitions occurred at PCAs of 32, 34, 37, and 40 1/4 -41 weeks. These four transition points allowed the general gyral development to be divided into five stages. Development of gyri and sulci was most advanced in the area of the central sulcus and the medial occipital area. Development was latest in the frontobasal and frontopolar areas and the anterior part of the temporal lobe. CONCLUSION: A simple staging system allows easy assessment of the progress of cerebral gyration and sulcation in preterm and term infants.

A case-control study of epilepsy in multiple sclerosis (MS) is presented using magnetic resonance (MR) imaging to semiquantitatively assess cortical-subcortical lesion load. In this sample of 13 pairs of cases with MS and epilepsy and controls with MS without epilepsy we found statistically higher cumulated cortical-subcortical lesion loads in the cases than in the controls (Wilcoxon, P = 0.036). Total lesion loads (cortical-subcortical plus deep white matter loads) did not differ significantly (P0.1) between cases and controls. The relative risk for seizures as determined by the odds ratio of a cortical-subcortical lesion load ofor = 20 was 8.8 (chi 2 = 5.23, P 0.025), the odds ratio of a large (1 cm) cortico-subcortical lesion was 4.7 (chi 2 = 4.9, P0.05), while the 2 MR criteria combined show an odds ratio of 19.2 (chi 2 = 8.0, P0.005). We conclude that: first, the presence of cortical-subcortical lesions in part accounts for the occurrence of seizures in MS patients; second, due to the substantial overlap of MR imaging scores between cases and controls the ultimate use of these MR imaging findings in the management of individual patients or in the organizations of trials should depend on the expected benefit of the treatment. If the benefit is only moderate or not known a cautious approach with exclusion of cases showing a substantial cortical-subcortical lesion load on MR imaging seems appropriate in trials with drugs, like 4-aminopyridine, that lower the epileptic threshold.

OBJECTIVE: To investigate the frequency of lumbosacral anomalies, the association with urogenital abnormalities, and the correlation with defaecation pattern by magnetic resonance imaging (MRI). METHODS: A prospective analysis was performed of routine MRI in patients with anorectal malformations. Between 1990 and 1994, MRI was performed in 43 such patients: 31 boys and 12 girls. Twenty four had a high anorectal malformation, 16 had a low anorectal malformation, and three had Currarino's triad. MRI was performed before reconstruction in 26, and postoperatively in 17. Urogenital anomalies were found in 21. RESULTS: Abnormalities of the spinal cord and spine were found with MRI in 20 patients (46.5%); caudal regression syndrome in 10, tethered cord in two, a combination of both in three, and other spinal anomalies in five. These anomalies were found in 30% of the patients with low anorectal malformations, and in 50% with high anorectal malformations. In patients with urogenital malformations, MRI more often showed spinal anomalies (13/21, 62%) than in patients without (7/22, 32%). In high anorectal malformations, defaecation was more often a problem in patients with spinal anomalies (12/15, 80%) than in patients without (2/8, 25%). CONCLUSIONS: Spinal anomalies in the lumbosacral region were found with MRI in 46.5% of patients with anorectal malformations. Since presence of these anomalies seems to be related to clinical outcome, MRI should be performed routinely in all such patients.

In children, several neurological disorders are characterised by spongiform leukoencephalopathy. MRI of the brain typically shows white matter swelling, but does not enable differentiation of the various underlying disorders. The aim of this article is optimisation of the diagnostic value of MRI in leukoencephalopathy accompanied by swelling. MRI-based inclusion criteria were met by 20 patients in our database. The images were analysed using a detailed scoring list. In 13 of the 20 patients the clinical diagnosis was known (11 definite and 2 probable diagnoses). Characteristic MRI abnormalities could be defined in these patients. Of the 7 patients without a diagnosis, 5 had identical MRI abnormalities: difuse hemisphere swelling and typical cysts in frontoparietal subcortical white matter and the tips of the temporal lobes. The clinical picture was also similar in these patients, suggesting a similar disease.

The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, severely impaired mental and motor development, and extrapyramidal dyskinesia is a distinct system degeneration, previously designated pontocerebellar hypoplasia type 2 (PCH-2). To further characterize its clinical and neuroimaging features, we compiled data from 10 nonrelated pedigrees. Six pedigrees were Dutch, two Swedish, and two German. All 16 patients showed an identical profile of virtually absent developmental milestones, early-onset severe chorea, and microcephaly together with pontocerebellar hypoplasia. Family distribution supports autosomal recessive transmission. The present data support the PCH-2 phenotype as a distinct neurogenetic entity.

PURPOSE: To determine whether gadolinium can improve the sensitivity and specificity of MR imaging for the initial diagnosis of multiple sclerosis. METHODS: Patients (n = 57) with neurologic symptoms suggesting multiple sclerosis were studied prospectively. MR imaging consisted of T2-weighted and gadolinium-enhanced T1-weighted spin-echo images. Lumbar puncture was performed for cerebrospinal fluid analysis in 34 patients. RESULTS: After imaging, 17 patients (35%) had clinically definite multiple sclerosis. Cerebrospinal fluid examination had a sensitivity of 69% and specificity of 38%. Using liberal criteria, the sensitivity of T2-weighted MR imaging was 94% and the specificity 55%; using more strict criteria, the specificity increased to 65% with a sensitivity of 88%. Gadopentetate dimeglumine enhancement increased the specificity further to 80% with a loss of sensitivity (59%). CONCLUSION: Gadolinium enhancement increases the specificity of MR imaging in the early diagnosis of multiple sclerosis.